EPM9
MCID: EPL154
MIFTS: 24

Epilepsy, Progressive Myoclonic, 9 (EPM9)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 9

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 9:

Name: Epilepsy, Progressive Myoclonic, 9 58 30 6
Epm9 58 60 76
Progressive Myoclonic Epilepsy Due to Lmnb2 Deficiency 60
Progressive Myoclonic Epilepsy Type 9 60
Progressive Myoclonus Epilepsy Type 9 60
Epilepsy, Progressive Myoclonic 9 76
Pme Type 9 60

Characteristics:

Orphanet epidemiological data:

60
progressive myoclonic epilepsy type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: young Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in the first decade
two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)


HPO:

33
epilepsy, progressive myoclonic, 9:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Epilepsy, Progressive Myoclonic, 9

UniProtKB/Swiss-Prot : 76 Epilepsy, progressive myoclonic 9: An autosomal recessive form of progressive myoclonic epilepsy, a rare disease initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. EPM9 features include myoclonus, tonic-clonic seizures, ataxia, and psychomotor development.

MalaCards based summary : Epilepsy, Progressive Myoclonic, 9, also known as epm9, is related to lipodystrophy, partial, acquired. An important gene associated with Epilepsy, Progressive Myoclonic, 9 is LMNB2 (Lamin B2), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and Gastric Cancer Network 2. Affiliated tissues include tongue, and related phenotypes are scoliosis and global developmental delay

Description from OMIM: 616540

Related Diseases for Epilepsy, Progressive Myoclonic, 9

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 9

Human phenotypes related to Epilepsy, Progressive Myoclonic, 9:

33 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 global developmental delay 33 HP:0001263
3 myoclonus 33 HP:0001336
4 gait ataxia 33 HP:0002066
5 ventriculomegaly 33 HP:0002119
6 status epilepticus 33 HP:0002133
7 generalized amyotrophy 33 HP:0003700
8 short thumb 33 HP:0009778
9 microglossia 33 HP:0000171

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
myoclonus
gait ataxia
status epilepticus
enlarged ventricles (patient a)
more
Muscle Soft Tissue:
muscle atrophy, diffuse
loss of subcutaneous fat, diffuse

Skeletal Hands:
curved digits (patient a)
short thumbs (patient a)

Skeletal Spine:
scoliosis

Head And Neck Mouth:
small tongue (patient a)

Clinical features from OMIM:

616540

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 9

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 9

Genetic Tests for Epilepsy, Progressive Myoclonic, 9

Genetic tests related to Epilepsy, Progressive Myoclonic, 9:

# Genetic test Affiliating Genes
1 Epilepsy, Progressive Myoclonic, 9 30 LMNB2

Anatomical Context for Epilepsy, Progressive Myoclonic, 9

MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 9:

42
Tongue

Publications for Epilepsy, Progressive Myoclonic, 9

Articles related to Epilepsy, Progressive Myoclonic, 9:

(showing 1, show less)
# Title Authors Year
1
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030 )
2015

Variations for Epilepsy, Progressive Myoclonic, 9

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 LMNB2 p.His157Tyr VAR_074170 rs797045143

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

6 (showing 120, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNB2 NM_032737.3(LMNB2): c.704G> A (p.Arg235Gln) single nucleotide variant Benign rs121912497 GRCh37 Chromosome 19, 2435150: 2435150
2 LMNB2 NM_032737.3(LMNB2): c.704G> A (p.Arg235Gln) single nucleotide variant Benign rs121912497 GRCh38 Chromosome 19, 2435152: 2435152
3 LMNB2 NM_032737.4(LMNB2): c.469C> T (p.His157Tyr) single nucleotide variant Pathogenic rs797045143 GRCh38 Chromosome 19, 2438464: 2438464
4 LMNB2 NM_032737.4(LMNB2): c.469C> T (p.His157Tyr) single nucleotide variant Pathogenic rs797045143 GRCh37 Chromosome 19, 2438462: 2438462
5 LMNB2 NM_032737.3(LMNB2): c.1699G> A (p.Ala567Thr) single nucleotide variant Uncertain significance rs760189690 GRCh37 Chromosome 19, 2431792: 2431792
6 LMNB2 NM_032737.3(LMNB2): c.1699G> A (p.Ala567Thr) single nucleotide variant Uncertain significance rs760189690 GRCh38 Chromosome 19, 2431794: 2431794
7 LMNB2 NM_032737.3(LMNB2): c.804C> T (p.Asp268=) single nucleotide variant Benign/Likely benign rs150969746 GRCh37 Chromosome 19, 2435050: 2435050
8 LMNB2 NM_032737.3(LMNB2): c.804C> T (p.Asp268=) single nucleotide variant Benign/Likely benign rs150969746 GRCh38 Chromosome 19, 2435052: 2435052
9 LMNB2 NM_032737.3(LMNB2): c.402C> T (p.Ser134=) single nucleotide variant Conflicting interpretations of pathogenicity rs148213507 GRCh38 Chromosome 19, 2438531: 2438531
10 LMNB2 NM_032737.3(LMNB2): c.402C> T (p.Ser134=) single nucleotide variant Conflicting interpretations of pathogenicity rs148213507 GRCh37 Chromosome 19, 2438529: 2438529
11 LMNB2 NM_032737.3(LMNB2): c.856-8C> T single nucleotide variant Likely benign rs766316644 GRCh38 Chromosome 19, 2434921: 2434921
12 LMNB2 NM_032737.3(LMNB2): c.856-8C> T single nucleotide variant Likely benign rs766316644 GRCh37 Chromosome 19, 2434919: 2434919
13 LMNB2 NM_032737.3(LMNB2): c.1821+4G> A single nucleotide variant Uncertain significance rs779811801 GRCh38 Chromosome 19, 2431544: 2431544
14 LMNB2 NM_032737.3(LMNB2): c.1821+4G> A single nucleotide variant Uncertain significance rs779811801 GRCh37 Chromosome 19, 2431542: 2431542
15 LMNB2 NM_032737.3(LMNB2): c.1707C> T (p.Gly569=) single nucleotide variant Likely benign rs372581793 GRCh38 Chromosome 19, 2431786: 2431786
16 LMNB2 NM_032737.3(LMNB2): c.1707C> T (p.Gly569=) single nucleotide variant Likely benign rs372581793 GRCh37 Chromosome 19, 2431784: 2431784
17 LMNB2 NM_032737.3(LMNB2): c.1698C> T (p.Asn566=) single nucleotide variant Likely benign rs147619532 GRCh38 Chromosome 19, 2431795: 2431795
18 LMNB2 NM_032737.3(LMNB2): c.1698C> T (p.Asn566=) single nucleotide variant Likely benign rs147619532 GRCh37 Chromosome 19, 2431793: 2431793
19 LMNB2 NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln) single nucleotide variant Likely benign rs142557433 GRCh38 Chromosome 19, 2435041: 2435041
20 LMNB2 NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln) single nucleotide variant Likely benign rs142557433 GRCh37 Chromosome 19, 2435039: 2435039
21 LMNB2 NM_032737.3(LMNB2): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs779429811 GRCh38 Chromosome 19, 2438490: 2438490
22 LMNB2 NM_032737.3(LMNB2): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs779429811 GRCh37 Chromosome 19, 2438488: 2438488
23 LMNB2 NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs370820384 GRCh38 Chromosome 19, 2444458: 2444458
24 LMNB2 NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs370820384 GRCh37 Chromosome 19, 2444456: 2444456
25 LMNB2 NM_032737.3(LMNB2): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs140216957 GRCh38 Chromosome 19, 2432431: 2432431
26 LMNB2 NM_032737.3(LMNB2): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs140216957 GRCh37 Chromosome 19, 2432429: 2432429
27 LMNB2 NM_032737.3(LMNB2): c.1344C> T (p.Gly448=) single nucleotide variant Likely benign rs144665669 GRCh38 Chromosome 19, 2433964: 2433964
28 LMNB2 NM_032737.3(LMNB2): c.1344C> T (p.Gly448=) single nucleotide variant Likely benign rs144665669 GRCh37 Chromosome 19, 2433962: 2433962
29 LMNB2 NM_032737.3(LMNB2): c.1332C> T (p.Pro444=) single nucleotide variant Likely benign rs998616364 GRCh38 Chromosome 19, 2433976: 2433976
30 LMNB2 NM_032737.3(LMNB2): c.1332C> T (p.Pro444=) single nucleotide variant Likely benign rs998616364 GRCh37 Chromosome 19, 2433974: 2433974
31 LMNB2 NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg) single nucleotide variant Uncertain significance rs766553520 GRCh38 Chromosome 19, 2434087: 2434087
32 LMNB2 NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg) single nucleotide variant Uncertain significance rs766553520 GRCh37 Chromosome 19, 2434085: 2434085
33 LMNB2 NM_032737.3(LMNB2): c.558+5G> A single nucleotide variant Uncertain significance rs747264492 GRCh38 Chromosome 19, 2438370: 2438370
34 LMNB2 NM_032737.3(LMNB2): c.558+5G> A single nucleotide variant Uncertain significance rs747264492 GRCh37 Chromosome 19, 2438368: 2438368
35 LMNB2 NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp) single nucleotide variant Uncertain significance rs768416033 GRCh38 Chromosome 19, 2438493: 2438493
36 LMNB2 NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp) single nucleotide variant Uncertain significance rs768416033 GRCh37 Chromosome 19, 2438491: 2438491
37 LMNB2 NM_032737.3(LMNB2): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs375961613 GRCh38 Chromosome 19, 2438505: 2438505
38 LMNB2 NM_032737.3(LMNB2): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs375961613 GRCh37 Chromosome 19, 2438503: 2438503
39 LMNB2 NM_032737.3(LMNB2): c.1554G> C (p.Thr518=) single nucleotide variant Benign rs11882908 GRCh38 Chromosome 19, 2432452: 2432452
40 LMNB2 NM_032737.3(LMNB2): c.1554G> C (p.Thr518=) single nucleotide variant Benign rs11882908 GRCh37 Chromosome 19, 2432450: 2432450
41 LMNB2 NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly) single nucleotide variant Uncertain significance rs766297775 GRCh38 Chromosome 19, 2433905: 2433905
42 LMNB2 NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly) single nucleotide variant Uncertain significance rs766297775 GRCh37 Chromosome 19, 2433903: 2433903
43 LMNB2 NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg) single nucleotide variant Likely benign rs772769360 GRCh38 Chromosome 19, 2433945: 2433945
44 LMNB2 NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg) single nucleotide variant Likely benign rs772769360 GRCh37 Chromosome 19, 2433943: 2433943
45 LMNB2 NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp) single nucleotide variant Uncertain significance rs368949581 GRCh38 Chromosome 19, 2434052: 2434052
46 LMNB2 NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp) single nucleotide variant Uncertain significance rs368949581 GRCh37 Chromosome 19, 2434050: 2434050
47 LMNB2 NM_032737.3(LMNB2): c.1822-12_1822-5dup duplication Uncertain significance rs542821471 GRCh38 Chromosome 19, 2430957: 2430964
48 LMNB2 NM_032737.3(LMNB2): c.1822-12_1822-5dup duplication Uncertain significance rs542821471 GRCh37 Chromosome 19, 2430955: 2430962
49 LMNB2 NM_032737.3(LMNB2): c.1682G> T (p.Arg561Leu) single nucleotide variant Uncertain significance rs145444042 GRCh38 Chromosome 19, 2431811: 2431811
50 LMNB2 NM_032737.3(LMNB2): c.1682G> T (p.Arg561Leu) single nucleotide variant Uncertain significance rs145444042 GRCh37 Chromosome 19, 2431809: 2431809
51 LMNB2 NM_032737.3(LMNB2): c.982-4G> A single nucleotide variant Likely benign rs370025312 GRCh38 Chromosome 19, 2434519: 2434519
52 LMNB2 NM_032737.3(LMNB2): c.982-4G> A single nucleotide variant Likely benign rs370025312 GRCh37 Chromosome 19, 2434517: 2434517
53 LMNB2 NM_032737.3(LMNB2): c.1312C> T (p.Arg438Trp) single nucleotide variant Uncertain significance rs780728738 GRCh38 Chromosome 19, 2433996: 2433996
54 LMNB2 NM_032737.3(LMNB2): c.1312C> T (p.Arg438Trp) single nucleotide variant Uncertain significance rs780728738 GRCh37 Chromosome 19, 2433994: 2433994
55 LMNB2 NM_032737.3(LMNB2): c.855+8C> T single nucleotide variant Likely benign rs375918278 GRCh38 Chromosome 19, 2434993: 2434993
56 LMNB2 NM_032737.3(LMNB2): c.855+8C> T single nucleotide variant Likely benign rs375918278 GRCh37 Chromosome 19, 2434991: 2434991
57 LMNB2 NM_032737.3(LMNB2): c.700C> T (p.Arg234Trp) single nucleotide variant Uncertain significance rs148936043 GRCh38 Chromosome 19, 2435156: 2435156
58 LMNB2 NM_032737.3(LMNB2): c.700C> T (p.Arg234Trp) single nucleotide variant Uncertain significance rs148936043 GRCh37 Chromosome 19, 2435154: 2435154
59 LMNB2 NM_032737.3(LMNB2): c.1247G> T (p.Arg416Leu) single nucleotide variant Benign rs200293412 GRCh38 Chromosome 19, 2434061: 2434061
60 LMNB2 NM_032737.3(LMNB2): c.1247G> T (p.Arg416Leu) single nucleotide variant Benign rs200293412 GRCh37 Chromosome 19, 2434059: 2434059
61 LMNB2 NM_032737.3(LMNB2): c.1198G> T (p.Glu400Ter) single nucleotide variant Uncertain significance rs1555683015 GRCh38 Chromosome 19, 2434299: 2434299
62 LMNB2 NM_032737.3(LMNB2): c.1198G> T (p.Glu400Ter) single nucleotide variant Uncertain significance rs1555683015 GRCh37 Chromosome 19, 2434297: 2434297
63 LMNB2 NM_032737.3(LMNB2): c.1091G> A (p.Arg364Gln) single nucleotide variant Uncertain significance rs767615829 GRCh38 Chromosome 19, 2434406: 2434406
64 LMNB2 NM_032737.3(LMNB2): c.1091G> A (p.Arg364Gln) single nucleotide variant Uncertain significance rs767615829 GRCh37 Chromosome 19, 2434404: 2434404
65 LMNB2 NM_032737.3(LMNB2): c.1029C> T (p.Ala343=) single nucleotide variant Likely benign rs749052582 GRCh38 Chromosome 19, 2434468: 2434468
66 LMNB2 NM_032737.3(LMNB2): c.1029C> T (p.Ala343=) single nucleotide variant Likely benign rs749052582 GRCh37 Chromosome 19, 2434466: 2434466
67 LMNB2 NM_032737.3(LMNB2): c.691C> T (p.Arg231Trp) single nucleotide variant Uncertain significance rs760267703 GRCh37 Chromosome 19, 2435163: 2435163
68 LMNB2 NM_032737.3(LMNB2): c.691C> T (p.Arg231Trp) single nucleotide variant Uncertain significance rs760267703 GRCh38 Chromosome 19, 2435165: 2435165
69 LMNB2 NM_032737.3(LMNB2): c.906G> A (p.Ala302=) single nucleotide variant Likely benign rs144417417 GRCh38 Chromosome 19, 2434863: 2434863
70 LMNB2 NM_032737.3(LMNB2): c.906G> A (p.Ala302=) single nucleotide variant Likely benign rs144417417 GRCh37 Chromosome 19, 2434861: 2434861
71 LMNB2 NM_032737.3(LMNB2): c.264+7G> T single nucleotide variant Likely benign rs748398790 GRCh37 Chromosome 19, 2456661: 2456661
72 LMNB2 NM_032737.3(LMNB2): c.264+7G> T single nucleotide variant Likely benign rs748398790 GRCh38 Chromosome 19, 2456663: 2456663
73 LMNB2 NM_032737.3(LMNB2): c.574G> T (p.Ala192Ser) single nucleotide variant Uncertain significance rs112419003 GRCh38 Chromosome 19, 2438273: 2438273
74 LMNB2 NM_032737.3(LMNB2): c.574G> T (p.Ala192Ser) single nucleotide variant Uncertain significance rs112419003 GRCh37 Chromosome 19, 2438271: 2438271
75 LMNB2 NM_032737.3(LMNB2): c.514G> A (p.Gly172Ser) single nucleotide variant Uncertain significance rs145110937 GRCh38 Chromosome 19, 2438419: 2438419
76 LMNB2 NM_032737.3(LMNB2): c.514G> A (p.Gly172Ser) single nucleotide variant Uncertain significance rs145110937 GRCh37 Chromosome 19, 2438417: 2438417
77 LMNB2 NM_032737.3(LMNB2): c.1244C> T (p.Ser415Leu) single nucleotide variant Uncertain significance rs201335788 GRCh38 Chromosome 19, 2434064: 2434064
78 LMNB2 NM_032737.3(LMNB2): c.1244C> T (p.Ser415Leu) single nucleotide variant Uncertain significance rs201335788 GRCh37 Chromosome 19, 2434062: 2434062
79 LMNB2 NM_032737.3(LMNB2): c.477C> A (p.Ser159Arg) single nucleotide variant Uncertain significance rs923000484 GRCh38 Chromosome 19, 2438456: 2438456
80 LMNB2 NM_032737.3(LMNB2): c.477C> A (p.Ser159Arg) single nucleotide variant Uncertain significance rs923000484 GRCh37 Chromosome 19, 2438454: 2438454
81 LMNB2 NM_032737.3(LMNB2): c.157C> T (p.Leu53Phe) single nucleotide variant Uncertain significance rs1555684976 GRCh37 Chromosome 19, 2456775: 2456775
82 LMNB2 NM_032737.3(LMNB2): c.157C> T (p.Leu53Phe) single nucleotide variant Uncertain significance rs1555684976 GRCh38 Chromosome 19, 2456777: 2456777
83 LMNB2 NM_032737.3(LMNB2): c.1776G> A (p.Glu592=) single nucleotide variant Likely benign rs1555682686 GRCh37 Chromosome 19, 2431591: 2431591
84 LMNB2 NM_032737.3(LMNB2): c.1776G> A (p.Glu592=) single nucleotide variant Likely benign rs1555682686 GRCh38 Chromosome 19, 2431593: 2431593
85 LMNB2 NM_032737.3(LMNB2): c.273C> T (p.Gly91=) single nucleotide variant Uncertain significance rs1163719792 GRCh38 Chromosome 19, 2444532: 2444532
86 LMNB2 NM_032737.3(LMNB2): c.273C> T (p.Gly91=) single nucleotide variant Uncertain significance rs1163719792 GRCh37 Chromosome 19, 2444530: 2444530
87 LMNB2 NM_032737.3(LMNB2): c.255C> G (p.Thr85=) single nucleotide variant Benign rs201524951 GRCh37 Chromosome 19, 2456677: 2456677
88 LMNB2 NM_032737.3(LMNB2): c.255C> G (p.Thr85=) single nucleotide variant Benign rs201524951 GRCh38 Chromosome 19, 2456679: 2456679
89 LMNB2 NM_032737.3(LMNB2): c.1351G> A (p.Val451Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2433957: 2433957
90 LMNB2 NM_032737.3(LMNB2): c.1351G> A (p.Val451Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2433955: 2433955
91 LMNB2 NM_032737.3(LMNB2): c.712G> A (p.Glu238Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2435142: 2435142
92 LMNB2 NM_032737.3(LMNB2): c.712G> A (p.Glu238Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2435144: 2435144
93 LMNB2 NM_032737.3(LMNB2): c.658G> C (p.Asp220His) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2438187: 2438187
94 LMNB2 NM_032737.3(LMNB2): c.658G> C (p.Asp220His) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2438189: 2438189
95 LMNB2 NM_032737.3(LMNB2): c.1570C> T (p.Arg524Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2432434: 2432434
96 LMNB2 NM_032737.3(LMNB2): c.1570C> T (p.Arg524Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2432436: 2432436
97 LMNB2 NM_032737.3(LMNB2): c.1231C> T (p.Arg411Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2434075: 2434075
98 LMNB2 NM_032737.3(LMNB2): c.1231C> T (p.Arg411Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2434077: 2434077
99 LMNB2 NM_032737.3(LMNB2): c.575C> T (p.Ala192Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2438270: 2438270
100 LMNB2 NM_032737.3(LMNB2): c.575C> T (p.Ala192Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2438272: 2438272
101 LMNB2 NM_032737.3(LMNB2): c.418G> A (p.Gly140Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2438515: 2438515
102 LMNB2 NM_032737.3(LMNB2): c.418G> A (p.Gly140Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2438513: 2438513
103 LMNB2 NM_032737.3(LMNB2): c.1298G> A (p.Arg433His) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2434008: 2434008
104 LMNB2 NM_032737.3(LMNB2): c.1298G> A (p.Arg433His) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2434010: 2434010
105 LMNB2 NM_032737.3(LMNB2): c.742C> T (p.Arg248Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2435112: 2435112
106 LMNB2 NM_032737.3(LMNB2): c.742C> T (p.Arg248Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2435114: 2435114
107 LMNB2 NM_032737.3(LMNB2): c.457G> A (p.Glu153Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2438474: 2438474
108 LMNB2 NM_032737.3(LMNB2): c.457G> A (p.Glu153Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2438476: 2438476
109 LMNB2 NM_032737.3(LMNB2): c.177C> A (p.His59Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2456755: 2456755
110 LMNB2 NM_032737.3(LMNB2): c.177C> A (p.His59Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2456757: 2456757
111 LMNB2 NM_032737.3(LMNB2): c.1256C> T (p.Ser419Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2434050: 2434050
112 LMNB2 NM_032737.3(LMNB2): c.1256C> T (p.Ser419Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2434052: 2434052
113 LMNB2 NM_032737.3(LMNB2): c.1202+4C> G single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2434289: 2434289
114 LMNB2 NM_032737.3(LMNB2): c.1202+4C> G single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2434291: 2434291
115 LMNB2 NM_032737.3(LMNB2): c.685-8G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2435177: 2435177
116 LMNB2 NM_032737.3(LMNB2): c.685-8G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2435179: 2435179
117 LMNB2 NM_032737.3(LMNB2): c.512G> A (p.Arg171His) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2438419: 2438419
118 LMNB2 NM_032737.3(LMNB2): c.512G> A (p.Arg171His) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2438421: 2438421
119 LMNB2 NM_032737.3(LMNB2): c.11C> T (p.Pro4Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 2456921: 2456921
120 LMNB2 NM_032737.3(LMNB2): c.11C> T (p.Pro4Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 2456923: 2456923

Expression for Epilepsy, Progressive Myoclonic, 9

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