EIG13
MCID: EPL205
MIFTS: 29

Epilepsy, Idiopathic Generalized 13 (EIG13)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 13

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 13:

Name: Epilepsy, Idiopathic Generalized 13 57 72
Epilepsy, Childhood Absence 4 57 72 29 6
Epilepsy, Juvenile Myoclonic 5 57 29 6
Eig13 57 12 72
Epilepsy, Childhood Absence, Susceptibility to, 4 57 13
Idiopathic Generalized Epilepsy 13 12 15
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 13 39
Epilepsy, Idiopathic Generalized, Susceptibility to, 13 57
Epilepsy, Juvenile Myoclonic, Susceptibility to, 5 57
Susceptibility to Juvenile Myoclonic Epilepsy 5 72
Juvenile Myoclonic Epilepsy 5 72
Eca4 72
Ejm5 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0111314
OMIM® 57 611136
OMIM Phenotypic Series 57 PS254770 PS600131 PS600669

Summaries for Epilepsy, Idiopathic Generalized 13

UniProtKB/Swiss-Prot : 72 Epilepsy, childhood absence 4: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
Epilepsy, idiopathic generalized 13: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures.
Juvenile myoclonic epilepsy 5: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.

MalaCards based summary : Epilepsy, Idiopathic Generalized 13, also known as epilepsy, childhood absence 4, is related to amelogenesis imperfecta, type ig and amelogenesis imperfecta. An important gene associated with Epilepsy, Idiopathic Generalized 13 is GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1). Related phenotype is reproductive system.

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in heterozygous mutation in the GABRA1 on chromosome 5q34.

OMIM® : 57 Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see 600669). For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669. For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (600131) and JME (254770), respectively. (611136) (Updated 05-Apr-2021)

Related Diseases for Epilepsy, Idiopathic Generalized 13

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 13

Clinical features from OMIM®:

611136 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized 13:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 8.92 ACSBG1 GABRA1 OXT SERPINA5

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 13

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 13

Genetic Tests for Epilepsy, Idiopathic Generalized 13

Genetic tests related to Epilepsy, Idiopathic Generalized 13:

# Genetic test Affiliating Genes
1 Epilepsy, Juvenile Myoclonic 5 29 GABRA1
2 Epilepsy, Childhood Absence 4 29

Anatomical Context for Epilepsy, Idiopathic Generalized 13

Publications for Epilepsy, Idiopathic Generalized 13

Articles related to Epilepsy, Idiopathic Generalized 13:

(showing 14, show less)
# Title Authors PMID Year
1
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. 6 57
21714819 2011
2
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 6 57
16718694 2006
3
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 6 57
11992121 2002
4
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 6
29655203 2018
5
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 6
29186148 2017
6
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. 6
27521439 2016
7
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 6
27353043 2016
8
De novo GABRA1 mutations in Ohtahara and West syndromes. 6
26918889 2016
9
Copy number variation plays an important role in clinical epilepsy. 6
24811917 2014
10
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 6
24623842 2014
11
Rare copy number variants are an important cause of epileptic encephalopathies. 6
22190369 2011
12
GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. 6
20551311 2010
13
Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. 6
18534981 2008
14
An expert system for the diagnosis of epilepsy: results of a clinical trial. 61
11767220 2001

Variations for Epilepsy, Idiopathic Generalized 13

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 13:

6 (showing 213, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GABRA1 NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) Deletion Pathogenic 568345 rs1561587715 GRCh37: 5:161322682-161322701
GRCh38: 5:161895676-161895695
2 GABRA1 NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) SNV Pathogenic 265161 rs727503940 GRCh37: 5:161309644-161309644
GRCh38: 5:161882638-161882638
3 overlap with 4 genes NC_000005.9:g.(?_160721068)_(161528343_?)del Deletion Pathogenic 833049 GRCh37: 5:160721068-161528343
GRCh38:
4 GABRA1 NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) SNV Pathogenic 265162 rs886039373 GRCh37: 5:161309645-161309645
GRCh38: 5:161882639-161882639
5 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 GRCh37: 5:161300202-161300202
GRCh38: 5:161873196-161873196
6 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 GRCh37: 5:161300202-161300202
GRCh38: 5:161873196-161873196
7 GABRA1 NM_001127644.2(GABRA1):c.857-2A>G SNV Likely pathogenic 585892 rs1313965409 GRCh37: 5:161322670-161322670
GRCh38: 5:161895664-161895664
8 GABRA1 NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) SNV Likely pathogenic 853851 GRCh37: 5:161322680-161322680
GRCh38: 5:161895674-161895674
9 GABRA1 NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys) SNV Likely pathogenic 858746 GRCh37: 5:161318025-161318025
GRCh38: 5:161891019-161891019
10 GABRA1 NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe) SNV Likely pathogenic 950574 GRCh37: 5:161317999-161317999
GRCh38: 5:161890993-161890993
11 GABRA1 NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) SNV Likely pathogenic 205521 rs796052492 GRCh37: 5:161317999-161317999
GRCh38: 5:161890993-161890993
12 GABRA1 NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp) SNV risk factor 16214 rs121434579 GRCh37: 5:161322780-161322780
GRCh38: 5:161895774-161895774
13 GABRA1 NM_001127644.2(GABRA1):c.975del (p.Ser326fs) Deletion risk factor 16215 rs1581220270 GRCh37: 5:161322790-161322790
GRCh38: 5:161895784-161895784
14 GABRA1 NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC Insertion risk factor 127231 rs587777363 GRCh37: 5:161964512-161964513
GRCh38: 5:162537506-162537507
15 GABRA1 NM_001127644.2(GABRA1):c.655G>A (p.Asp219Asn) SNV risk factor 127232 rs587777364 GRCh37: 5:161309659-161309659
GRCh38: 5:161882653-161882653
16 GABRA1 NM_001127644.2(GABRA1):c.*1443A>G SNV Uncertain significance 352613 rs575959204 GRCh37: 5:161325871-161325871
GRCh38: 5:161898865-161898865
17 GABRA1 NM_001127644.2(GABRA1):c.*1061T>C SNV Uncertain significance 352610 rs374002978 GRCh37: 5:161325489-161325489
GRCh38: 5:161898483-161898483
18 GABRA1 NM_001127644.2(GABRA1):c.477-14A>G SNV Uncertain significance 352596 rs757378039 GRCh37: 5:161302552-161302552
GRCh38: 5:161875546-161875546
19 GABRA1 NM_001127644.2(GABRA1):c.*1526A>G SNV Uncertain significance 352616 rs540638714 GRCh37: 5:161325954-161325954
GRCh38: 5:161898948-161898948
20 GABRA1 NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=) SNV Uncertain significance 352600 rs541335259 GRCh37: 5:161324263-161324263
GRCh38: 5:161897257-161897257
21 GABRA1 NM_001127644.2(GABRA1):c.857-5T>C SNV Uncertain significance 352599 rs543710675 GRCh37: 5:161322667-161322667
GRCh38: 5:161895661-161895661
22 GABRA1 NM_000806.5(GABRA1):c.-439A>G SNV Uncertain significance 352586 rs886060357 GRCh37: 5:161274226-161274226
GRCh38: 5:161847220-161847220
23 GABRA1 NM_000806.5(GABRA1):c.-448G>C SNV Uncertain significance 352583 rs11576000 GRCh37: 5:161274217-161274217
GRCh38: 5:161847211-161847211
24 GABRA1 NM_001127644.2(GABRA1):c.*1752G>T SNV Uncertain significance 352619 rs41303356 GRCh37: 5:161326180-161326180
GRCh38: 5:161899174-161899174
25 GABRA1 NM_001127644.2(GABRA1):c.*213C>T SNV Uncertain significance 352602 rs886060362 GRCh37: 5:161324641-161324641
GRCh38: 5:161897635-161897635
26 GABRA1 NM_001127644.2(GABRA1):c.-252T>C SNV Uncertain significance 352589 rs766490931 GRCh37: 5:161275192-161275192
GRCh38: 5:161848186-161848186
27 GABRA1 NM_001127644.2(GABRA1):c.*2334C>T SNV Uncertain significance 352625 rs886060373 GRCh37: 5:161326762-161326762
GRCh38: 5:161899756-161899756
28 GABRA1 NM_001127644.2(GABRA1):c.*1601T>G SNV Uncertain significance 352617 rs886060369 GRCh37: 5:161326029-161326029
GRCh38: 5:161899023-161899023
29 GABRA1 NM_001127644.2(GABRA1):c.-220T>C SNV Uncertain significance 352590 rs186477194 GRCh37: 5:161275224-161275224
GRCh38: 5:161848218-161848218
30 GABRA1 NM_000806.5(GABRA1):c.-405T>C SNV Uncertain significance 352587 rs181962869 GRCh37: 5:161274260-161274260
GRCh38: 5:161847254-161847254
31 GABRA1 NM_001127644.2(GABRA1):c.*1971T>C SNV Uncertain significance 352623 rs886060372 GRCh37: 5:161326399-161326399
GRCh38: 5:161899393-161899393
32 GABRA1 NM_001127644.2(GABRA1):c.*1821T>G SNV Uncertain significance 352620 rs10059108 GRCh37: 5:161326249-161326249
GRCh38: 5:161899243-161899243
33 GABRA1 NM_001127644.2(GABRA1):c.*1381T>C SNV Uncertain significance 352612 rs187522588 GRCh37: 5:161325809-161325809
GRCh38: 5:161898803-161898803
34 GABRA1 NM_001127644.2(GABRA1):c.*771C>T SNV Uncertain significance 352609 rs886060366 GRCh37: 5:161325199-161325199
GRCh38: 5:161898193-161898193
35 GABRA1 NM_001127644.2(GABRA1):c.*2523A>C SNV Uncertain significance 352626 rs567624810 GRCh37: 5:161326951-161326951
GRCh38: 5:161899945-161899945
36 GABRA1 NM_001127644.2(GABRA1):c.255+12C>T SNV Uncertain significance 137408 rs144727170 GRCh37: 5:161292806-161292806
GRCh38: 5:161865800-161865800
37 GABRA1 NM_001127644.2(GABRA1):c.*401G>A SNV Uncertain significance 352606 rs541504060 GRCh37: 5:161324829-161324829
GRCh38: 5:161897823-161897823
38 GABRA1 NM_001127644.2(GABRA1):c.*1512G>A SNV Uncertain significance 352615 rs886060368 GRCh37: 5:161325940-161325940
GRCh38: 5:161898934-161898934
39 GABRA1 NM_001127644.2(GABRA1):c.*1319A>G SNV Uncertain significance 352611 rs886060367 GRCh37: 5:161325747-161325747
GRCh38: 5:161898741-161898741
40 GABRA1 NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) SNV Uncertain significance 137412 rs551045474 GRCh37: 5:161322769-161322769
GRCh38: 5:161895763-161895763
41 GABRA1 NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) SNV Uncertain significance 352597 rs372742479 GRCh37: 5:161309676-161309676
GRCh38: 5:161882670-161882670
42 GABRA1 NM_000806.5(GABRA1):c.-449G>C SNV Uncertain significance 352581 rs190043578 GRCh37: 5:161274216-161274216
GRCh38: 5:161847210-161847210
43 GABRA1 NM_001127644.2(GABRA1):c.*398A>C SNV Uncertain significance 352605 rs374845401 GRCh37: 5:161324826-161324826
GRCh38: 5:161897820-161897820
44 GABRA1 NM_001127644.2(GABRA1):c.-10C>G SNV Uncertain significance 352595 rs376699435 GRCh37: 5:161277807-161277807
GRCh38: 5:161850801-161850801
45 GABRA1 NM_001127644.2(GABRA1):c.856+11A>G SNV Uncertain significance 352598 rs564871157 GRCh37: 5:161318067-161318067
GRCh38: 5:161891061-161891061
46 GABRA1 NM_001127644.2(GABRA1):c.1228A>G (p.Lys410Glu) SNV Uncertain significance 468872 rs1424659316 GRCh37: 5:161324285-161324285
GRCh38: 5:161897279-161897279
47 GABRA1 NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly) SNV Uncertain significance 468875 rs1554085822 GRCh37: 5:161302574-161302574
GRCh38: 5:161875568-161875568
48 GABRA1 NM_000806.5(GABRA1):c.-448G>A SNV Uncertain significance 352582 rs11576000 GRCh37: 5:161274217-161274217
GRCh38: 5:161847211-161847211
49 GABRA1 NM_000806.5(GABRA1):c.-455G>A SNV Uncertain significance 352579 rs531705924 GRCh37: 5:161274210-161274210
GRCh38: 5:161847204-161847204
50 GABRA1 NM_001127644.2(GABRA1):c.*1659A>G SNV Uncertain significance 352618 rs886060370 GRCh37: 5:161326087-161326087
GRCh38: 5:161899081-161899081
51 GABRA1 NM_001127644.2(GABRA1):c.*413G>A SNV Uncertain significance 352607 rs886060365 GRCh37: 5:161324841-161324841
GRCh38: 5:161897835-161897835
52 GABRA1 NM_001127644.2(GABRA1):c.*1837C>G SNV Uncertain significance 352621 rs886060371 GRCh37: 5:161326265-161326265
GRCh38: 5:161899259-161899259
53 GABRA1 NM_001127644.2(GABRA1):c.-195A>G SNV Uncertain significance 352591 rs886060359 GRCh37: 5:161275249-161275249
GRCh38: 5:161848243-161848243
54 GABRA1 NM_001127644.2(GABRA1):c.*2279G>A SNV Uncertain significance 352624 rs575186628 GRCh37: 5:161326707-161326707
GRCh38: 5:161899701-161899701
55 GABRA1 NM_001127644.2(GABRA1):c.*302A>G SNV Uncertain significance 352604 rs886060364 GRCh37: 5:161324730-161324730
GRCh38: 5:161897724-161897724
56 GABRA1 NM_000806.5(GABRA1):c.-248+8C>A SNV Uncertain significance 352588 rs886060358 GRCh37: 5:161274425-161274425
GRCh38: 5:161847419-161847419
57 GABRA1 NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr) SNV Uncertain significance 571668 rs1424508480 GRCh37: 5:161324165-161324165
GRCh38: 5:161897159-161897159
58 GABRA1 NM_001127644.2(GABRA1):c.75C>T (p.Ser25=) SNV Uncertain significance 579311 rs75423500 GRCh37: 5:161281164-161281164
GRCh38: 5:161854158-161854158
59 GABRA1 NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) SNV Uncertain significance 579644 rs1561587910 GRCh37: 5:161322835-161322835
GRCh38: 5:161895829-161895829
60 GABRA1 NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) SNV Uncertain significance 626110 rs866861998 GRCh37: 5:161281169-161281169
GRCh38: 5:161854163-161854163
61 GABRA1 NM_001127644.2(GABRA1):c.1004A>T (p.Asn335Ile) SNV Uncertain significance 644880 rs1581220295 GRCh37: 5:161322819-161322819
GRCh38: 5:161895813-161895813
62 GABRA1 NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile) SNV Uncertain significance 655593 rs1581220210 GRCh37: 5:161322747-161322747
GRCh38: 5:161895741-161895741
63 GABRA1 NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) SNV Uncertain significance 205521 rs796052492 GRCh37: 5:161317999-161317999
GRCh38: 5:161890993-161890993
64 GABRA1 NM_001127644.2(GABRA1):c.1070T>C (p.Val357Ala) SNV Uncertain significance 659833 rs749707253 GRCh37: 5:161324127-161324127
GRCh38: 5:161897121-161897121
65 GABRA1 NM_001127644.2(GABRA1):c.1332C>G (p.Asn444Lys) SNV Uncertain significance 536747 rs1554087843 GRCh37: 5:161324389-161324389
GRCh38: 5:161897383-161897383
66 GABRA1 NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys) SNV Uncertain significance 536749 rs769743354 GRCh37: 5:161281183-161281183
GRCh38: 5:161854177-161854177
67 GABRA1 NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) SNV Uncertain significance 197167 rs143815396 GRCh37: 5:161281174-161281174
GRCh38: 5:161854168-161854168
68 GABRA1 NM_001127644.2(GABRA1):c.649C>A (p.Gln217Lys) SNV Uncertain significance 468878 rs1554086437 GRCh37: 5:161309653-161309653
GRCh38: 5:161882647-161882647
69 GABRA1 NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu) SNV Uncertain significance 565880 rs1561584736 GRCh37: 5:161317987-161317987
GRCh38: 5:161890981-161890981
70 GABRA1 NM_001127644.2(GABRA1):c.611G>A (p.Arg204His) SNV Uncertain significance 951254 GRCh37: 5:161309615-161309615
GRCh38: 5:161882609-161882609
71 GABRA1 NM_001127644.2(GABRA1):c.1160C>T (p.Ala387Val) SNV Uncertain significance 953684 GRCh37: 5:161324217-161324217
GRCh38: 5:161897211-161897211
72 GABRA1 NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile) SNV Uncertain significance 962701 GRCh37: 5:161322678-161322678
GRCh38: 5:161895672-161895672
73 GABRA1 NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup) Duplication Uncertain significance 963369 GRCh37: 5:161324408-161324409
GRCh38: 5:161897402-161897403
74 GABRA1 NM_001127644.2(GABRA1):c.74+3_74+4delinsAT Indel Uncertain significance 969559 GRCh37: 5:161277893-161277894
GRCh38: 5:161850887-161850888
75 GABRA1 NM_001127644.2(GABRA1):c.1321_1324delinsC (p.Thr441_Tyr442delinsHis) Indel Uncertain significance 970934 GRCh37: 5:161324378-161324381
GRCh38: 5:161897372-161897375
76 GABRA1 NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg) SNV Uncertain significance 497531 rs376031361 GRCh37: 5:161324286-161324286
GRCh38: 5:161897280-161897280
77 GABRA1 NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val) SNV Uncertain significance 373415 rs1057518405 GRCh37: 5:161324354-161324354
GRCh38: 5:161897348-161897348
78 GABRA1 NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) SNV Uncertain significance 137416 rs142385746 GRCh37: 5:161324407-161324407
GRCh38: 5:161897401-161897401
79 GABRA1 NM_001127644.2(GABRA1):c.*988A>G SNV Uncertain significance 907625 GRCh37: 5:161325416-161325416
GRCh38: 5:161898410-161898410
80 GABRA1 NM_001127644.2(GABRA1):c.*993C>T SNV Uncertain significance 907626 GRCh37: 5:161325421-161325421
GRCh38: 5:161898415-161898415
81 GABRA1 NM_001127644.2(GABRA1):c.*1324T>C SNV Uncertain significance 907627 GRCh37: 5:161325752-161325752
GRCh38: 5:161898746-161898746
82 GABRA1 NM_001127644.2(GABRA1):c.*1359T>C SNV Uncertain significance 907628 GRCh37: 5:161325787-161325787
GRCh38: 5:161898781-161898781
83 GABRA1 NM_001127644.2(GABRA1):c.*2035G>A SNV Uncertain significance 907700 GRCh37: 5:161326463-161326463
GRCh38: 5:161899457-161899457
84 GABRA1 NM_001127644.2(GABRA1):c.*2098C>T SNV Uncertain significance 907701 GRCh37: 5:161326526-161326526
GRCh38: 5:161899520-161899520
85 GABRA1 NM_001127644.2(GABRA1):c.1105G>A (p.Ala369Thr) SNV Uncertain significance 590081 rs775344663 GRCh37: 5:161324162-161324162
GRCh38: 5:161897156-161897156
86 GABRA1 NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile) SNV Uncertain significance 205522 rs796052493 GRCh37: 5:161322674-161322674
GRCh38: 5:161895668-161895668
87 GABRA1 NM_001127644.2(GABRA1):c.1244G>C (p.Ser415Thr) SNV Uncertain significance 946857 GRCh37: 5:161324301-161324301
GRCh38: 5:161897295-161897295
88 GABRA1 NM_001127644.2(GABRA1):c.-16+8C>A SNV Uncertain significance 137407 rs138671319 GRCh37: 5:161275436-161275436
GRCh38: 5:161848430-161848430
89 GABRA1 NM_001127644.2(GABRA1):c.-15-5T>G SNV Uncertain significance 904957 GRCh37: 5:161277797-161277797
GRCh38: 5:161850791-161850791
90 GABRA1 NM_001127644.2(GABRA1):c.*325T>A SNV Uncertain significance 905021 GRCh37: 5:161324753-161324753
GRCh38: 5:161897747-161897747
91 GABRA1 NM_001127644.2(GABRA1):c.*433G>C SNV Uncertain significance 905022 GRCh37: 5:161324861-161324861
GRCh38: 5:161897855-161897855
92 GABRA1 NM_001127644.2(GABRA1):c.*438A>C SNV Uncertain significance 905023 GRCh37: 5:161324866-161324866
GRCh38: 5:161897860-161897860
93 GABRA1 NM_001127644.2(GABRA1):c.*456C>T SNV Uncertain significance 905024 GRCh37: 5:161324884-161324884
GRCh38: 5:161897878-161897878
94 GABRA1 NM_001127644.2(GABRA1):c.*1609A>C SNV Uncertain significance 905089 GRCh37: 5:161326037-161326037
GRCh38: 5:161899031-161899031
95 GABRA1 NM_001127644.2(GABRA1):c.*1611G>A SNV Uncertain significance 905090 GRCh37: 5:161326039-161326039
GRCh38: 5:161899033-161899033
96 GABRA1 NM_001127644.2(GABRA1):c.*1685C>T SNV Uncertain significance 905091 GRCh37: 5:161326113-161326113
GRCh38: 5:161899107-161899107
97 GABRA1 NM_001127644.2(GABRA1):c.*1686G>A SNV Uncertain significance 905092 GRCh37: 5:161326114-161326114
GRCh38: 5:161899108-161899108
98 GABRA1 NM_001127644.2(GABRA1):c.*1697A>G SNV Uncertain significance 905093 GRCh37: 5:161326125-161326125
GRCh38: 5:161899119-161899119
99 GABRA1 NM_001127644.2(GABRA1):c.*1749T>C SNV Uncertain significance 905094 GRCh37: 5:161326177-161326177
GRCh38: 5:161899171-161899171
100 GABRA1 NM_001127644.2(GABRA1):c.93A>C (p.Leu31Phe) SNV Uncertain significance 906545 GRCh37: 5:161281182-161281182
GRCh38: 5:161854176-161854176
101 GABRA1 NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) SNV Uncertain significance 129125 rs76224028 GRCh37: 5:161281185-161281185
GRCh38: 5:161854179-161854179
102 GABRA1 NM_001127644.2(GABRA1):c.191G>A (p.Arg64His) SNV Uncertain significance 906546 GRCh37: 5:161292730-161292730
GRCh38: 5:161865724-161865724
103 GABRA1 NM_001127644.2(GABRA1):c.234A>C (p.Gly78=) SNV Uncertain significance 906547 GRCh37: 5:161292773-161292773
GRCh38: 5:161865767-161865767
104 GABRA1 NM_001127644.2(GABRA1):c.243A>C (p.Ser81=) SNV Uncertain significance 906548 GRCh37: 5:161292782-161292782
GRCh38: 5:161865776-161865776
105 GABRA1 NM_001127644.2(GABRA1):c.*580G>A SNV Uncertain significance 906603 GRCh37: 5:161325008-161325008
GRCh38: 5:161898002-161898002
106 GABRA1 NM_001127644.2(GABRA1):c.*580G>T SNV Uncertain significance 906604 GRCh37: 5:161325008-161325008
GRCh38: 5:161898002-161898002
107 GABRA1 NM_001127644.2(GABRA1):c.*630T>C SNV Uncertain significance 906605 GRCh37: 5:161325058-161325058
GRCh38: 5:161898052-161898052
108 GABRA1 NM_001127644.2(GABRA1):c.*826G>A SNV Uncertain significance 906606 GRCh37: 5:161325254-161325254
GRCh38: 5:161898248-161898248
109 GABRA1 NM_001127644.2(GABRA1):c.*838G>A SNV Uncertain significance 906607 GRCh37: 5:161325266-161325266
GRCh38: 5:161898260-161898260
110 GABRA1 NM_001127644.2(GABRA1):c.*1781T>C SNV Uncertain significance 906673 GRCh37: 5:161326209-161326209
GRCh38: 5:161899203-161899203
111 GABRA1 NM_001127644.2(GABRA1):c.*1938A>G SNV Uncertain significance 906674 GRCh37: 5:161326366-161326366
GRCh38: 5:161899360-161899360
112 GABRA1 NM_001127644.2(GABRA1):c.*1984T>C SNV Uncertain significance 906675 GRCh37: 5:161326412-161326412
GRCh38: 5:161899406-161899406
113 GABRA1 NM_001127644.2(GABRA1):c.*2009G>C SNV Uncertain significance 906676 GRCh37: 5:161326437-161326437
GRCh38: 5:161899431-161899431
114 GABRA1 NM_000806.5(GABRA1):c.-447G>C SNV Uncertain significance 907501 GRCh37: 5:161274218-161274218
GRCh38: 5:161847212-161847212
115 GABRA1 NM_000806.5(GABRA1):c.-447G>T SNV Uncertain significance 907502 GRCh37: 5:161274218-161274218
GRCh38: 5:161847212-161847212
116 GABRA1 NM_001127644.2(GABRA1):c.1358C>T (p.Thr453Ile) SNV Uncertain significance 858031 GRCh37: 5:161324415-161324415
GRCh38: 5:161897409-161897409
117 GABRA1 NM_001127644.2(GABRA1):c.1059+2T>C SNV Uncertain significance 845402 GRCh37: 5:161322876-161322876
GRCh38: 5:161895870-161895870
118 GABRA1 NM_001127644.2(GABRA1):c.703+5G>A SNV Uncertain significance 848130 GRCh37: 5:161309712-161309712
GRCh38: 5:161882706-161882706
119 GABRA1 NM_000806.5(GABRA1):c.-399C>T SNV Uncertain significance 904175 GRCh37: 5:161274266-161274266
GRCh38: 5:161847260-161847260
120 GABRA1 NM_000806.5(GABRA1):c.-248+5C>T SNV Uncertain significance 904176 GRCh37: 5:161274422-161274422
GRCh38: 5:161847416-161847416
121 GABRA1 NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His) SNV Uncertain significance 904229 GRCh37: 5:161324136-161324136
GRCh38: 5:161897130-161897130
122 GABRA1 NM_001127644.2(GABRA1):c.1322C>T (p.Thr441Met) SNV Uncertain significance 904230 GRCh37: 5:161324379-161324379
GRCh38: 5:161897373-161897373
123 GABRA1 NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) SNV Uncertain significance 93432 rs138259457 GRCh37: 5:161324380-161324380
GRCh38: 5:161897374-161897374
124 GABRA1 NM_001127644.2(GABRA1):c.*242C>G SNV Uncertain significance 904231 GRCh37: 5:161324670-161324670
GRCh38: 5:161897664-161897664
125 GABRA1 NM_001127644.2(GABRA1):c.*1425T>C SNV Uncertain significance 904289 GRCh37: 5:161325853-161325853
GRCh38: 5:161898847-161898847
126 GABRA1 NM_001127644.2(GABRA1):c.*1426A>G SNV Uncertain significance 904290 GRCh37: 5:161325854-161325854
GRCh38: 5:161898848-161898848
127 GABRA1 NM_001127644.2(GABRA1):c.-162G>A SNV Uncertain significance 904955 GRCh37: 5:161275282-161275282
GRCh38: 5:161848276-161848276
128 GABRA1 NM_001127644.2(GABRA1):c.637T>A (p.Ser213Thr) SNV Uncertain significance 661858 rs1581207094 GRCh37: 5:161309641-161309641
GRCh38: 5:161882635-161882635
129 GABRA1 NM_001127644.2(GABRA1):c.1151C>T (p.Pro384Leu) SNV Uncertain significance 1035140 GRCh37: 5:161324208-161324208
GRCh38: 5:161897202-161897202
130 GABRA1 NM_001127644.2(GABRA1):c.677A>G (p.Asp226Gly) SNV Uncertain significance 1037516 GRCh37: 5:161309681-161309681
GRCh38: 5:161882675-161882675
131 GABRA1 NM_001127644.2(GABRA1):c.1211C>G (p.Thr404Arg) SNV Uncertain significance 1039251 GRCh37: 5:161324268-161324268
GRCh38: 5:161897262-161897262
132 GABRA1 NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile) SNV Uncertain significance 546090 rs756553428 GRCh37: 5:161277875-161277875
GRCh38: 5:161850869-161850869
133 GABRA1 NM_001127644.2(GABRA1):c.268G>T (p.Asp90Tyr) SNV Uncertain significance 834116 GRCh37: 5:161300135-161300135
GRCh38: 5:161873129-161873129
134 GABRA1 NM_001127644.2(GABRA1):c.703+8C>A SNV Uncertain significance 697087 rs376693195 GRCh37: 5:161309715-161309715
GRCh38: 5:161882709-161882709
135 GABRA1 NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) SNV Uncertain significance 137414 rs41308303 GRCh37: 5:161324212-161324212
GRCh38: 5:161897206-161897206
136 GABRA1 NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) SNV Uncertain significance 137410 rs200750234 GRCh37: 5:161302590-161302590
GRCh38: 5:161875584-161875584
137 GABRA1 NM_001127644.2(GABRA1):c.1274T>C (p.Ile425Thr) SNV Uncertain significance 1004240 GRCh37: 5:161324331-161324331
GRCh38: 5:161897325-161897325
138 GABRA1 NM_001127644.2(GABRA1):c.1147G>A (p.Asp383Asn) SNV Uncertain significance 1006468 GRCh37: 5:161324204-161324204
GRCh38: 5:161897198-161897198
139 GABRA1 NM_001127644.2(GABRA1):c.1366C>T (p.Gln456Ter) SNV Uncertain significance 1007854 GRCh37: 5:161324423-161324423
GRCh38: 5:161897417-161897417
140 GABRA1 NM_001127644.2(GABRA1):c.534T>G (p.His178Gln) SNV Uncertain significance 1010060 GRCh37: 5:161302623-161302623
GRCh38: 5:161875617-161875617
141 GABRA1 NM_001127644.2(GABRA1):c.1351G>A (p.Ala451Thr) SNV Uncertain significance 536748 rs1312439667 GRCh37: 5:161324408-161324408
GRCh38: 5:161897402-161897402
142 GABRA1 NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp) SNV Uncertain significance 581609 rs1437350481 GRCh37: 5:161302587-161302587
GRCh38: 5:161875581-161875581
143 GABRA1 NM_001127644.2(GABRA1):c.920T>C (p.Val307Ala) SNV Uncertain significance 655340 rs1581220195 GRCh37: 5:161322735-161322735
GRCh38: 5:161895729-161895729
144 GABRA1 NM_001127644.2(GABRA1):c.962A>G (p.Tyr321Cys) SNV Uncertain significance 934096 GRCh37: 5:161322777-161322777
GRCh38: 5:161895771-161895771
145 GABRA1 NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly) SNV Uncertain significance 938214 GRCh37: 5:161300163-161300163
GRCh38: 5:161873157-161873157
146 GABRA1 NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) SNV Uncertain significance 424394 rs775157869 GRCh37: 5:161324264-161324264
GRCh38: 5:161897258-161897258
147 GABRA1 NM_001127644.2(GABRA1):c.226A>G (p.Ser76Gly) SNV Uncertain significance 943742 GRCh37: 5:161292765-161292765
GRCh38: 5:161865759-161865759
148 GABRA1 NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys) SNV Uncertain significance 951092 GRCh37: 5:161292729-161292729
GRCh38: 5:161865723-161865723
149 GABRA1 NM_001127644.2(GABRA1):c.770C>T (p.Thr257Ile) SNV Uncertain significance 952243 GRCh37: 5:161317970-161317970
GRCh38: 5:161890964-161890964
150 GABRA1 NM_001127644.2(GABRA1):c.602A>G (p.Glu201Gly) SNV Uncertain significance 956330 GRCh37: 5:161309606-161309606
GRCh38: 5:161882600-161882600
151 GABRA1 NM_001127644.2(GABRA1):c.653A>C (p.Tyr218Ser) SNV Uncertain significance 1014710 GRCh37: 5:161309657-161309657
GRCh38: 5:161882651-161882651
152 GABRA1 NM_001127644.2(GABRA1):c.850G>C (p.Val284Leu) SNV Uncertain significance 1019582 GRCh37: 5:161318050-161318050
GRCh38: 5:161891044-161891044
153 GABRA1 NM_001127644.2(GABRA1):c.217T>A (p.Phe73Ile) SNV Uncertain significance 1022351 GRCh37: 5:161292756-161292756
GRCh38: 5:161865750-161865750
154 GABRA1 NM_001127644.2(GABRA1):c.474G>A (p.Met158Ile) SNV Uncertain significance 1023588 GRCh37: 5:161300341-161300341
GRCh38: 5:161873335-161873335
155 GABRA1 NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser) SNV Uncertain significance 453024 rs1229633395 GRCh37: 5:161324291-161324291
GRCh38: 5:161897285-161897285
156 GABRA1 NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg) SNV Uncertain significance 1026791 GRCh37: 5:161322696-161322696
GRCh38: 5:161895690-161895690
157 GABRA1 NM_001127644.2(GABRA1):c.1253A>G (p.Lys418Arg) SNV Uncertain significance 1026925 GRCh37: 5:161324310-161324310
GRCh38: 5:161897304-161897304
158 GABRA1 NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser) SNV Uncertain significance 938090 GRCh37: 5:161318024-161318024
GRCh38: 5:161891018-161891018
159 GABRA1 NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu) SNV Uncertain significance 938690 GRCh37: 5:161322729-161322729
GRCh38: 5:161895723-161895723
160 GABRA1 NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu) SNV Uncertain significance 944837 GRCh37: 5:161324249-161324249
GRCh38: 5:161897243-161897243
161 GABRA1 NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp) SNV Uncertain significance 947414 GRCh37: 5:161300201-161300201
GRCh38: 5:161873195-161873195
162 GABRA1 NM_001127644.2(GABRA1):c.638C>T (p.Ser213Leu) SNV Uncertain significance 958694 GRCh37: 5:161309642-161309642
GRCh38: 5:161882636-161882636
163 GABRA1 NM_001127644.2(GABRA1):c.634G>C (p.Gly212Arg) SNV Uncertain significance 962144 GRCh37: 5:161309638-161309638
GRCh38: 5:161882632-161882632
164 GABRA1 NM_001127644.2(GABRA1):c.*937C>A SNV Likely benign 907624 GRCh37: 5:161325365-161325365
GRCh38: 5:161898359-161898359
165 GABRA1 NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) SNV Likely benign 198751 rs374616425 GRCh37: 5:161309616-161309616
GRCh38: 5:161882610-161882610
166 GABRA1 NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) SNV Likely benign 137409 rs190024862 GRCh37: 5:161300308-161300308
GRCh38: 5:161873302-161873302
167 GABRA1 NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) SNV Likely benign 196289 rs113886269 GRCh37: 5:161277843-161277843
GRCh38: 5:161850837-161850837
168 GABRA1 NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) SNV Likely benign 137411 rs587780947 GRCh37: 5:161309637-161309637
GRCh38: 5:161882631-161882631
169 GABRA1 NM_001127644.2(GABRA1):c.703+8C>A SNV Likely benign 697087 rs376693195 GRCh37: 5:161309715-161309715
GRCh38: 5:161882709-161882709
170 GABRA1 NM_001127644.2(GABRA1):c.78T>C (p.Tyr26=) SNV Likely benign 377902 rs779666888 GRCh37: 5:161281167-161281167
GRCh38: 5:161854161-161854161
171 GABRA1 NM_001127644.2(GABRA1):c.231C>T (p.Phe77=) SNV Likely benign 590144 rs566224462 GRCh37: 5:161292770-161292770
GRCh38: 5:161865764-161865764
172 GABRA1 NM_001127644.2(GABRA1):c.873C>T (p.Leu291=) SNV Likely benign 379161 rs777911034 GRCh37: 5:161322688-161322688
GRCh38: 5:161895682-161895682
173 GABRA1 NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met) SNV Likely benign 833592 GRCh37: 5:161322860-161322860
GRCh38: 5:161895854-161895854
174 GABRA1 NM_001127644.2(GABRA1):c.372G>A (p.Pro124=) SNV Likely benign 700866 rs1378731581 GRCh37: 5:161300239-161300239
GRCh38: 5:161873233-161873233
175 GABRA1 NM_001127644.2(GABRA1):c.846A>G (p.Arg282=) SNV Likely benign 377903 rs139467768 GRCh37: 5:161318046-161318046
GRCh38: 5:161891040-161891040
176 GABRA1 NM_001127644.2(GABRA1):c.732C>T (p.Phe244=) SNV Likely benign 700946 rs1581215256 GRCh37: 5:161317932-161317932
GRCh38: 5:161890926-161890926
177 GABRA1 NM_001127644.2(GABRA1):c.237C>T (p.Pro79=) SNV Likely benign 742645 rs536603724 GRCh37: 5:161292776-161292776
GRCh38: 5:161865770-161865770
178 GABRA1 NM_001127644.2(GABRA1):c.33T>C (p.Leu11=) SNV Likely benign 759315 rs766418049 GRCh37: 5:161277849-161277849
GRCh38: 5:161850843-161850843
179 GABRA1 NM_001127644.2(GABRA1):c.531C>T (p.Ala177=) SNV Likely benign 798683 rs747452052 GRCh37: 5:161302620-161302620
GRCh38: 5:161875614-161875614
180 GABRA1 NM_001127644.2(GABRA1):c.-53C>A SNV Likely benign 904956 GRCh37: 5:161275391-161275391
GRCh38: 5:161848385-161848385
181 GABRA1 NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val) SNV Likely benign 833861 GRCh37: 5:161324213-161324213
GRCh38: 5:161897207-161897207
182 GABRA1 NM_001127644.2(GABRA1):c.950T>C (p.Ile317Thr) SNV Likely benign 833972 GRCh37: 5:161322765-161322765
GRCh38: 5:161895759-161895759
183 GABRA1 NM_000806.5(GABRA1):c.-446G>C SNV Likely benign 907503 GRCh37: 5:161274219-161274219
GRCh38: 5:161847213-161847213
184 GABRA1 NM_001127644.2(GABRA1):c.576A>G (p.Ala192=) SNV Likely benign 468877 rs1319609279 GRCh37: 5:161309580-161309580
GRCh38: 5:161882574-161882574
185 GABRA1 NM_001127644.2(GABRA1):c.216C>T (p.Ile72=) SNV Likely benign 468874 rs200716712 GRCh37: 5:161292755-161292755
GRCh38: 5:161865749-161865749
186 GABRA1 NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=) SNV Likely benign 137415 rs74873701 GRCh37: 5:161324341-161324341
GRCh38: 5:161897335-161897335
187 GABRA1 NM_001127644.2(GABRA1):c.1065G>A (p.Lys355=) SNV Likely benign 536752 rs1554087785 GRCh37: 5:161324122-161324122
GRCh38: 5:161897116-161897116
188 GABRA1 NM_001127644.2(GABRA1):c.150A>G (p.Leu50=) SNV Likely benign 468873 rs1006797468 GRCh37: 5:161281239-161281239
GRCh38: 5:161854233-161854233
189 GABRA1 NM_001127644.2(GABRA1):c.48C>T (p.Leu16=) SNV Likely benign 468876 rs1554083720 GRCh37: 5:161277864-161277864
GRCh38: 5:161850858-161850858
190 GABRA1 NM_001127644.2(GABRA1):c.856+8C>T SNV Likely benign 468880 rs1554087151 GRCh37: 5:161318064-161318064
GRCh38: 5:161891058-161891058
191 GABRA1 NM_001127644.2(GABRA1):c.857-8C>T SNV Likely benign 468881 rs752572964 GRCh37: 5:161322664-161322664
GRCh38: 5:161895658-161895658
192 GABRA1 NM_001127644.2(GABRA1):c.756C>T (p.Tyr252=) SNV Likely benign 468879 rs775895535 GRCh37: 5:161317956-161317956
GRCh38: 5:161890950-161890950
193 GABRA1 NM_001127644.2(GABRA1):c.74+9A>T SNV Likely benign 129124 rs41275339 GRCh37: 5:161277899-161277899
GRCh38: 5:161850893-161850893
194 GABRA1 NM_001127644.2(GABRA1):c.-31C>T SNV Benign 352594 rs4608967 GRCh37: 5:161275413-161275413
GRCh38: 5:161848407-161848407
195 GABRA1 NM_001127644.2(GABRA1):c.*470A>G SNV Benign 352608 rs2290732 GRCh37: 5:161324898-161324898
GRCh38: 5:161897892-161897892
196 GABRA1 NM_001127644.2(GABRA1):c.-142A>G SNV Benign 352592 rs12658835 GRCh37: 5:161275302-161275302
GRCh38: 5:161848296-161848296
197 GABRA1 NM_001127644.2(GABRA1):c.*1929T>C SNV Benign 352622 rs2290733 GRCh37: 5:161326357-161326357
GRCh38: 5:161899351-161899351
198 GABRA1 NM_000806.5(GABRA1):c.-441A>G SNV Benign 352585 rs11576001 GRCh37: 5:161274224-161274224
GRCh38: 5:161847218-161847218
199 GABRA1 NM_001127644.2(GABRA1):c.*1506A>C SNV Benign 352614 rs998754 GRCh37: 5:161325934-161325934
GRCh38: 5:161898928-161898928
200 GABRA1 NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) SNV Benign 129123 rs1129647 GRCh37: 5:161281245-161281245
GRCh38: 5:161854239-161854239
201 GABRA1 NM_001127644.2(GABRA1):c.1059+15G>A SNV Benign 93431 rs2279020 GRCh37: 5:161322889-161322889
GRCh38: 5:161895883-161895883
202 GABRA1 NM_001127644.2(GABRA1):c.831G>A (p.Glu277=) SNV Benign 205515 rs764666718 GRCh37: 5:161318031-161318031
GRCh38: 5:161891025-161891025
203 GABRA1 NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) SNV Benign 137412 rs551045474 GRCh37: 5:161322769-161322769
GRCh38: 5:161895763-161895763
204 GABRA1 NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) SNV Benign 265163 rs139793542 GRCh37: 5:161324282-161324282
GRCh38: 5:161897276-161897276
205 GABRA1 NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) SNV Benign 93432 rs138259457 GRCh37: 5:161324380-161324380
GRCh38: 5:161897374-161897374
206 GABRA1 NM_001127644.2(GABRA1):c.1337A>G (p.Glu446Gly) SNV Benign 833667 GRCh37: 5:161324394-161324394
GRCh38: 5:161897388-161897388
207 GABRA1 NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn) SNV Benign 205514 rs796052487 GRCh37: 5:161277827-161277827
GRCh38: 5:161850821-161850821
208 GABRA1 NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=) SNV Benign 137413 rs187648029 GRCh37: 5:161324143-161324143
GRCh38: 5:161897137-161897137
209 GABRA1 NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) SNV Benign 137414 rs41308303 GRCh37: 5:161324212-161324212
GRCh38: 5:161897206-161897206
210 GABRA1 NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) SNV Benign 137416 rs142385746 GRCh37: 5:161324407-161324407
GRCh38: 5:161897401-161897401
211 GABRA1 NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) SNV Benign 205529 rs200218956 GRCh37: 5:161281175-161281175
GRCh38: 5:161854169-161854169
212 GABRA1 NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) SNV Benign 137410 rs200750234 GRCh37: 5:161302590-161302590
GRCh38: 5:161875584-161875584
213 GABRA1 NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) SNV Benign 129125 rs76224028 GRCh37: 5:161281185-161281185
GRCh38: 5:161854179-161854179

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 13:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 GABRA1 p.Ala322Asp VAR_013642 rs121434579
2 GABRA1 p.Asp219Asn VAR_071810 rs587777364

Expression for Epilepsy, Idiopathic Generalized 13

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 13.

Pathways for Epilepsy, Idiopathic Generalized 13

GO Terms for Epilepsy, Idiopathic Generalized 13

Biological processes related to Epilepsy, Idiopathic Generalized 13 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 response to glucocorticoid GO:0051384 8.62 OXT ACSBG1

Sources for Epilepsy, Idiopathic Generalized 13

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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57 OMIM® (Updated 05-Apr-2021)
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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