DRTA2
MCID: RNL126
MIFTS: 25

Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss (DRTA2)

Categories: Ear diseases, Genetic diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

MalaCards integrated aliases for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

Name: Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss 57
Renal Tubular Acidosis with Progressive Nerve Deafness 57 72 29 6
Rta with Progressive Nerve Deafness 57 72
Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness 57
Distal Renal Tubular Acidosis 2 with Progressive Sensorineural Hearing Loss 57
Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness 72
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 72
Acidosis, Tubular, Renal, with Progressive Nerve Deafness 39
Distal Renal Tubular Acidosis with Deafness 72
Drta-D 72
Drta2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
age at presentation infancy to 6 years


HPO:

31
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 267300
OMIM Phenotypic Series 57 PS179800
MedGen 41 C0403554
SNOMED-CT via HPO 68 1776003 258211005 60700002

Summaries for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

UniProtKB/Swiss-Prot : 72 Renal tubular acidosis, distal, with progressive nerve deafness: An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.

MalaCards based summary : Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss, also known as renal tubular acidosis with progressive nerve deafness, is related to renal tubular acidosis with deafness. An important gene associated with Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1). Related phenotypes are sensorineural hearing impairment and nephrolithiasis

More information from OMIM: 267300 PS179800

Related Diseases for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Diseases related to Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis with deafness 11.8

Symptoms & Phenotypes for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Human phenotypes related to Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

31 (showing 3, show less)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 nephrolithiasis 31 HP:0000787
3 renal tubular acidosis 31 HP:0001947

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
growth retardation

Abdomen Gastrointestinal:
vomiting
feeding problems

Skeletal:
rickets

Head And Neck Ears:
sensorineural hearing loss, severe-profound

Metabolic Features:
dehydration
primary distal renal tubular acidosis
hyperchloremic hypokalemic metabolic acidosis

Laboratory Abnormalities:
hypokalemia
hypercalciuria
urine ph >6.5

Genitourinary Kidneys:
nephrocalcinosis

Clinical features from OMIM®:

267300 (Updated 05-Apr-2021)

Drugs & Therapeutics for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Search Clinical Trials , NIH Clinical Center for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss

Genetic Tests for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Genetic tests related to Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

# Genetic test Affiliating Genes
1 Renal Tubular Acidosis with Progressive Nerve Deafness 29 ATP6V1B1

Anatomical Context for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Publications for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Articles related to Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

(showing 17, show less)
# Title Authors PMID Year
1
Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. 57 6
18798332 2008
2
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 6 57
12566520 2003
3
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 57 6
9916796 1999
4
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. 6
28233610 2017
5
Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. 6
22509993 2013
6
Inherited renal acidoses. 57
17557941 2007
7
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 57
16611712 2006
8
Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. 57
16433694 2006
9
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 57
12414817 2002
10
Siblings with renal tubular acidosis and nerve deafness. The first family in Japan. 57
6425198 1984
11
Renal tubular acidosis and sensorineural deafness: an autosomal recessive syndrome. 57
6768350 1980
12
Renal tubular acidosis and nerve deafness. 57
7387165 1980
13
Inherited variants of human red cell carbonic anhydrases. 57
6777336 1980
14
The acidification defect in the syndrome of renal tubular acidosis with nerve deafness. 57
419999 1979
15
The syndrome of renal tubular acidosis with nerve deafness. 57
1251715 1976
16
Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis. 57
4202671 1974
17
Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndrome. 57
4765211 1973

Variations for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

ClinVar genetic disease variations for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

6 (showing 89, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V1B1 ATP6V1B1, 1-BP DEL Deletion Pathogenic 12226 GRCh37:
GRCh38:
2 ATP6V1B1 ATP6V1B1, IVS12DS, G-C, +1 SNV Pathogenic 12230 GRCh37:
GRCh38:
3 ATP6V1B1 NM_001692.4(ATP6V1B1):c.585+1G>A SNV Pathogenic 12227 rs782723581 GRCh37: 2:71187209-71187209
GRCh38: 2:70960079-70960079
4 ATP6V1B1 NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) SNV Pathogenic 12228 rs121964880 GRCh37: 2:71185243-71185243
GRCh38: 2:70958113-70958113
5 ATP6V1B1 NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) SNV Pathogenic 12229 rs121964881 GRCh37: 2:71185233-71185233
GRCh38: 2:70958103-70958103
6 ATP6V1B1 NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) SNV Pathogenic 521461 rs782138777 GRCh37: 2:71185529-71185529
GRCh38: 2:70958399-70958399
7 ATP6V1B1 NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs) Deletion Pathogenic 975088 GRCh37: 2:71185184-71185184
GRCh38: 2:70958054-70958054
8 ATP6V1B1 NM_001692.4(ATP6V1B1):c.785+1G>A SNV Pathogenic 179259 rs727504746 GRCh37: 2:71188824-71188824
GRCh38: 2:70961694-70961694
9 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) Duplication Pathogenic 520772 rs781969081 GRCh37: 2:71191572-71191573
GRCh38: 2:70964442-70964443
10 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1248+1G>C SNV Pathogenic 555327 rs1553420702 GRCh37: 2:71191673-71191673
GRCh38: 2:70964543-70964543
11 ATP6V1B1 NM_001692.4(ATP6V1B1):c.91C>T (p.Arg31Ter) SNV Pathogenic 12225 rs121964879 GRCh37: 2:71163175-71163175
GRCh38: 2:70936045-70936045
12 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) SNV Pathogenic 280139 rs781838938 GRCh37: 2:71190419-71190419
GRCh38: 2:70963289-70963289
13 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1450G>T (p.Glu484Ter) SNV Pathogenic 1029521 GRCh37: 2:71192159-71192159
GRCh38: 2:70965029-70965029
14 ATP6V1B1 NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) SNV Pathogenic/Likely pathogenic 554499 rs145536062 GRCh37: 2:71190325-71190325
GRCh38: 2:70963195-70963195
15 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) SNV Likely pathogenic 801719 rs1572924733 GRCh37: 2:71192095-71192095
GRCh38: 2:70964965-70964965
16 ATP6V1B1 NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) SNV Likely pathogenic 554501 rs1553419751 GRCh37: 2:71187107-71187107
GRCh38: 2:70959977-70959977
17 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) SNV Conflicting interpretations of pathogenicity 178290 rs142905621 GRCh37: 2:71192103-71192103
GRCh38: 2:70964973-70964973
18 ATP6V1B1 NM_001692.4(ATP6V1B1):c.368-6C>T SNV Uncertain significance 227181 rs200038589 GRCh37: 2:71186142-71186142
GRCh38: 2:70959012-70959012
19 ATP6V1B1 NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) SNV Uncertain significance 228450 rs145196117 GRCh37: 2:71188116-71188116
GRCh38: 2:70960986-70960986
20 ATP6V1B1 NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln) SNV Uncertain significance 638431 rs200269431 GRCh37: 2:71185530-71185530
GRCh38: 2:70958400-70958400
21 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) SNV Uncertain significance 336927 rs372223196 GRCh37: 2:71191949-71191949
GRCh38: 2:70964819-70964819
22 ATP6V1B1 NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=) SNV Uncertain significance 227180 rs376581983 GRCh37: 2:71185190-71185190
GRCh38: 2:70958060-70958060
23 ATP6V1B1 NM_001692.4(ATP6V1B1):c.688-7T>C SNV Uncertain significance 162763 rs193240706 GRCh37: 2:71188719-71188719
GRCh38: 2:70961589-70961589
24 ATP6V1B1 NM_001692.4(ATP6V1B1):c.-19C>T SNV Uncertain significance 684162 rs115563001 GRCh37: 2:71163066-71163066
GRCh38: 2:70935936-70935936
25 ATP6V1B1 NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) SNV Uncertain significance 227184 rs527738649 GRCh37: 2:71163161-71163161
GRCh38: 2:70936031-70936031
26 ATP6V1B1 NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) SNV Uncertain significance 44226 rs147576439 GRCh37: 2:71185265-71185265
GRCh38: 2:70958135-70958135
27 ATP6V1B1 NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) SNV Uncertain significance 162762 rs145735762 GRCh37: 2:71189936-71189936
GRCh38: 2:70962806-70962806
28 ATP6V1B1 NM_001692.4(ATP6V1B1):c.181C>T (p.Gln61Ter) SNV Uncertain significance 632363 rs373621560 GRCh37: 2:71185182-71185182
GRCh38: 2:70958052-70958052
29 ATP6V1B1 NM_001692.4(ATP6V1B1):c.481_483GAG[1] (p.Glu162del) Microsatellite Uncertain significance 635435 rs1572920649 GRCh37: 2:71187104-71187106
GRCh38: 2:70959974-70959976
30 ATP6V1B1 NM_001692.4(ATP6V1B1):c.905G>C (p.Arg302Pro) SNV Uncertain significance 554502 rs782461130 GRCh37: 2:71190026-71190026
GRCh38: 2:70962896-70962896
31 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1249-15_1249-11del Deletion Uncertain significance 336924 rs886056273 GRCh37: 2:71191848-71191852
GRCh38: 2:70964718-70964722
32 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu) SNV Uncertain significance 336928 rs544337438 GRCh37: 2:71192178-71192178
GRCh38: 2:70965048-70965048
33 ATP6V1B1-AS1 , ATP6V1B1 NM_001692.4(ATP6V1B1):c.119-10C>T SNV Uncertain significance 336918 rs782666539 GRCh37: 2:71170778-71170778
GRCh38: 2:70943648-70943648
34 ATP6V1B1 NM_001692.4(ATP6V1B1):c.33G>C (p.Gly11=) SNV Uncertain significance 336917 rs199559744 GRCh37: 2:71163117-71163117
GRCh38: 2:70935987-70935987
35 ATP6V1B1 NM_001692.4(ATP6V1B1):c.875C>T (p.Thr292Met) SNV Uncertain significance 336919 rs141815629 GRCh37: 2:71189996-71189996
GRCh38: 2:70962866-70962866
36 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu) SNV Uncertain significance 228445 rs371863168 GRCh37: 2:71192091-71192091
GRCh38: 2:70964961-70964961
37 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1308G>A (p.Glu436=) SNV Uncertain significance 336926 rs886056274 GRCh37: 2:71191925-71191925
GRCh38: 2:70964795-70964795
38 ATP6V1B1 NM_001692.4(ATP6V1B1):c.*53G>A SNV Uncertain significance 336929 rs886056275 GRCh37: 2:71192304-71192304
GRCh38: 2:70965174-70965174
39 ATP6V1B1 NM_001692.4(ATP6V1B1):c.993G>T (p.Arg331=) SNV Uncertain significance 336921 rs886056272 GRCh37: 2:71190375-71190375
GRCh38: 2:70963245-70963245
40 ATP6V1B1 NM_001692.4(ATP6V1B1):c.*211del Deletion Uncertain significance 336932 rs886056276 GRCh37: 2:71192461-71192461
GRCh38: 2:70965331-70965331
41 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1143+10T>C SNV Uncertain significance 336923 rs782112331 GRCh37: 2:71190794-71190794
GRCh38: 2:70963664-70963664
42 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) SNV Uncertain significance 336925 rs531239712 GRCh37: 2:71191893-71191893
GRCh38: 2:70964763-70964763
43 ATP6V1B1 NM_001692.4(ATP6V1B1):c.91C>A (p.Arg31=) SNV Uncertain significance 895244 GRCh37: 2:71163175-71163175
GRCh38: 2:70936045-70936045
44 ATP6V1B1 NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys) SNV Uncertain significance 895245 GRCh37: 2:71163196-71163196
GRCh38: 2:70936066-70936066
45 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1478T>C (p.Val493Ala) SNV Uncertain significance 895309 GRCh37: 2:71192187-71192187
GRCh38: 2:70965057-70965057
46 ATP6V1B1 NM_001692.4(ATP6V1B1):c.567C>T (p.Ala189=) SNV Uncertain significance 896673 GRCh37: 2:71187190-71187190
GRCh38: 2:70960060-70960060
47 ATP6V1B1 NM_001692.4(ATP6V1B1):c.612G>A (p.Ala204=) SNV Uncertain significance 734386 rs782233102 GRCh37: 2:71188077-71188077
GRCh38: 2:70960947-70960947
48 ATP6V1B1 NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr) SNV Uncertain significance 228451 rs781981910 GRCh37: 2:71188129-71188129
GRCh38: 2:70960999-70960999
49 ATP6V1B1 NM_001692.4(ATP6V1B1):c.687+9A>G SNV Uncertain significance 896674 GRCh37: 2:71188161-71188161
GRCh38: 2:70961031-70961031
50 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1116C>T (p.Tyr372=) SNV Uncertain significance 897131 GRCh37: 2:71190757-71190757
GRCh38: 2:70963627-70963627
51 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1180C>A (p.Arg394=) SNV Uncertain significance 898294 GRCh37: 2:71191604-71191604
GRCh38: 2:70964474-70964474
52 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1199T>C (p.Ile400Thr) SNV Uncertain significance 898295 GRCh37: 2:71191623-71191623
GRCh38: 2:70964493-70964493
53 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1249-11C>T SNV Uncertain significance 898296 GRCh37: 2:71191855-71191855
GRCh38: 2:70964725-70964725
54 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1325A>G (p.Asp442Gly) SNV Uncertain significance 898297 GRCh37: 2:71191942-71191942
GRCh38: 2:70964812-70964812
55 ATP6V1B1 NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) SNV Uncertain significance 794520 rs1332086842 GRCh37: 2:71186173-71186173
GRCh38: 2:70959043-70959043
56 ATP6V1B1 NM_001692.4(ATP6V1B1):c.582T>C (p.Asn194=) SNV Uncertain significance 777948 rs376089214 GRCh37: 2:71187205-71187205
GRCh38: 2:70960075-70960075
57 ATP6V1B1 NM_001692.4(ATP6V1B1):c.750C>T (p.Asn250=) SNV Uncertain significance 732456 rs185606441 GRCh37: 2:71188788-71188788
GRCh38: 2:70961658-70961658
58 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1378+10G>A SNV Uncertain significance 738687 rs782676816 GRCh37: 2:71192005-71192005
GRCh38: 2:70964875-70964875
59 ATP6V1B1 NM_001692.4(ATP6V1B1):c.204C>T (p.Phe68=) SNV Uncertain significance 991640 GRCh37: 2:71185205-71185205
GRCh38: 2:70958075-70958075
60 ATP6V1B1 NM_001692.4(ATP6V1B1):c.298G>A (p.Asp100Asn) SNV Uncertain significance 991641 GRCh37: 2:71185487-71185487
GRCh38: 2:70958357-70958357
61 ATP6V1B1 NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys) SNV Uncertain significance 991642 GRCh37: 2:71187158-71187158
GRCh38: 2:70960028-70960028
62 ATP6V1B1 NM_001692.4(ATP6V1B1):c.931G>A (p.Val311Met) SNV Uncertain significance 991643 GRCh37: 2:71190313-71190313
GRCh38: 2:70963183-70963183
63 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1373A>G (p.Asn458Ser) SNV Uncertain significance 991644 GRCh37: 2:71191990-71191990
GRCh38: 2:70964860-70964860
64 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1436G>A (p.Arg479His) SNV Uncertain significance 991645 GRCh37: 2:71192145-71192145
GRCh38: 2:70965015-70965015
65 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1466T>C (p.Ile489Thr) SNV Uncertain significance 991646 GRCh37: 2:71192175-71192175
GRCh38: 2:70965045-70965045
66 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1503G>A (p.Glu501=) SNV Uncertain significance 991647 GRCh37: 2:71192212-71192212
GRCh38: 2:70965082-70965082
67 ATP6V1B1 NM_001692.4(ATP6V1B1):c.785+10C>T SNV Likely benign 226462 rs76241121 GRCh37: 2:71188833-71188833
GRCh38: 2:70961703-70961703
68 ATP6V1B1 NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) SNV Likely benign 227183 rs199914263 GRCh37: 2:71188056-71188056
GRCh38: 2:70960926-70960926
69 ATP6V1B1 NM_001692.4(ATP6V1B1):c.-17C>T SNV Likely benign 336916 rs202030952 GRCh37: 2:71163068-71163068
GRCh38: 2:70935938-70935938
70 ATP6V1B1 NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly) SNV Likely benign 336920 rs201556073 GRCh37: 2:71190308-71190308
GRCh38: 2:70963178-70963178
71 ATP6V1B1 NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser) SNV Likely benign 761407 rs111306070 GRCh37: 2:71163124-71163124
GRCh38: 2:70935994-70935994
72 ATP6V1B1 NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=) SNV Likely benign 227182 rs141969350 GRCh37: 2:71186203-71186203
GRCh38: 2:70959073-70959073
73 ATP6V1B1-AS1 , ATP6V1B1 NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) SNV Benign/Likely benign 162759 rs144845223 GRCh37: 2:71170813-71170813
GRCh38: 2:70943683-70943683
74 ATP6V1B1 NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=) SNV Benign 44227 rs17853498 GRCh37: 2:71163111-71163111
GRCh38: 2:70935981-70935981
75 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=) SNV Benign 178289 rs147250093 GRCh37: 2:71191937-71191937
GRCh38: 2:70964807-70964807
76 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) SNV Benign 44222 rs2072462 GRCh37: 2:71190384-71190384
GRCh38: 2:70963254-70963254
77 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1248+9A>G SNV Benign 44223 rs78140305 GRCh37: 2:71191681-71191681
GRCh38: 2:70964551-70964551
78 ATP6V1B1 NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) SNV Benign 44230 rs116139984 GRCh37: 2:71188119-71188119
GRCh38: 2:70960989-70960989
79 ATP6V1B1 NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) SNV Benign 44231 rs17720303 GRCh37: 2:71163173-71163173
GRCh38: 2:70936043-70936043
80 ATP6V1B1 NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) SNV Benign 44228 rs11681642 GRCh37: 2:71163086-71163086
GRCh38: 2:70935956-70935956
81 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=) SNV Benign 336922 rs117826071 GRCh37: 2:71190405-71190405
GRCh38: 2:70963275-70963275
82 ATP6V1B1 NM_001692.4(ATP6V1B1):c.-34C>T SNV Benign 336915 rs79652147 GRCh37: 2:71163051-71163051
GRCh38: 2:70935921-70935921
83 ATP6V1B1 NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) SNV Benign 44229 rs114234874 GRCh37: 2:71187104-71187104
GRCh38: 2:70959974-70959974
84 ATP6V1B1-AS1 , ATP6V1B1 NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=) SNV Benign 44225 rs2266918 GRCh37: 2:71170807-71170807
GRCh38: 2:70943677-70943677
85 ATP6V1B1 NM_001692.4(ATP6V1B1):c.*12G>A SNV Benign 44220 rs77794859 GRCh37: 2:71192263-71192263
GRCh38: 2:70965133-70965133
86 ATP6V1B1 NM_001692.4(ATP6V1B1):c.*80C>T SNV Benign 336931 rs117574187 GRCh37: 2:71192331-71192331
GRCh38: 2:70965201-70965201
87 ATP6V1B1 NM_001692.4(ATP6V1B1):c.-89A>G SNV Benign 369346 rs11685700 GRCh37: 2:71162996-71162996
GRCh38: 2:70935866-70935866
88 ATP6V1B1 NM_001692.4(ATP6V1B1):c.*6C>A SNV Benign 44221 rs45498896 GRCh37: 2:71192257-71192257
GRCh38: 2:70965127-70965127
89 ATP6V1B1 NM_001692.4(ATP6V1B1):c.*68C>T SNV Benign 336930 rs144725809 GRCh37: 2:71192319-71192319
GRCh38: 2:70965189-70965189

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

72 (showing 9, show less)
# Symbol AA change Variation ID SNP ID
1 ATP6V1B1 p.Leu81Pro VAR_007866 rs121964880
2 ATP6V1B1 p.Arg124Trp VAR_007867 rs727505222
3 ATP6V1B1 p.Met174Arg VAR_007868
4 ATP6V1B1 p.Thr275Pro VAR_007869 rs116160451
5 ATP6V1B1 p.Gly316Glu VAR_007870 rs155342041
6 ATP6V1B1 p.Pro346Arg VAR_007871 rs781838938
7 ATP6V1B1 p.Gly364Ser VAR_007872
8 ATP6V1B1 p.Gly123Val VAR_021012 rs134387162
9 ATP6V1B1 p.Arg157Cys VAR_021013 rs782500780

Expression for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Search GEO for disease gene expression data for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss.

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Sources for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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