Full data view for gene ATP6V0A4

Information The variants shown are described using the NM_020632.2 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/- 3 c.5T>C r.(?) p.(Val2Ala) Both (homozygous) - pathogenic g.138455988A>G g.138771243A>G - - ATP6V0A4_000001 NOTE: variant reported as disease associated (RTADR, SNHL) which is in conflict with the frequency observed in controls (up to 70%) PubMed: Kose 2014, Journal: Kose 2014 - rs10258719 Unknown - - - - - DNA PCR, SEQ - - RTADR, SNHL - PubMed: Kose 2014, Journal: Kose 2014 - F yes Turkey - >18y - - - 1 Johan den Dunnen
-/- 3 c.5T>C r.(?) p.(Val2Ala) Parent #1 - benign g.138455988A>G g.138771243A>G C>G (A2V) - ATP6V0A4_000001 ethnically matched controls PubMed: Smith 2000, Journal: Smith 2000 - - Germline - 0.72 controls - - - - - - - - - - - - - - - - - - - - -
-/. - c.5T>C r.(?) p.(Val2Ala) Unknown - benign g.138455988A>G g.138771243A>G ATP6V0A4(NM_020632.3):c.5T>C (p.V2A) - ATP6V0A4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5T>C r.(?) p.(Val2Ala) Unknown - benign g.138455988A>G g.138771243A>G ATP6V0A4(NM_020632.3):c.5T>C (p.V2A) - ATP6V0A4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.16C>T r.(?) p.(Arg6Ter) Unknown - pathogenic g.138455977G>A g.138771232G>A - - ATP6V0A4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.105del r.(?) p.(Gln36Serfs*5) Both (homozygous) - pathogenic g.138455889del g.138771144del V35fs - ATP6V0A4_000006 - PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0004 - rs587776616 Germline yes - - - - DNA SEQ - - RTADR - PubMed: Smith 2000, Journal: Smith 2000 5-generation family, 1 affected, unaffected heterozygous carrier parents/sib M yes Turkey - >14y - - - 1 Johan den Dunnen
?/. - c.196C>T r.(?) p.(Arg66Cys) Unknown - VUS g.138453918G>A - - - ATP6V0A4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.196+24_196+25del r.(=) p.(=) Unknown - benign g.138453907_138453908del g.138769162_138769163del ATP6V0A4(NM_020632.3):c.196+24_196+25delTT - ATP6V0A4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.196+25del r.(=) p.(=) Unknown - benign g.138453908del g.138769163del ATP6V0A4(NM_020632.3):c.196+25delT - ATP6V0A4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.292-42A>G r.(=) p.(=) Unknown - benign g.138447812T>C g.138763067T>C ATP6V0A4(NM_020632.3):c.292-42A>G - ATP6V0A4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.292-1G>A r.spl p.? Both (homozygous) - pathogenic g.138447771C>T g.138763026C>T IVS6-1G>A - ATP6V0A4_000004 in OMIM erroneously linked to rs587776617 PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0006 - - Germline yes - - - - DNA SEQ - - RTADR - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - >11y - - - 1 Johan den Dunnen
+/. - c.292-1G>A r.spl? p.? Both (homozygous) ACMG pathogenic g.138447771C>T g.138763026C>T - - ATP6V0A4_000004 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - RTADR - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.338del r.(?) p.(Asn113Thrfs*5) Unknown - pathogenic g.138447725del - ATP6V0A4(NM_020632.3):c.338delA (p.N113Tfs*5) - ATP6V0A4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.417+14G>C r.(=) p.(=) Unknown - benign g.138447631C>G g.138762886C>G ATP6V0A4(NM_020632.3):c.417+14G>C - ATP6V0A4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.417+14G>C r.(=) p.(=) Unknown - benign g.138447631C>G g.138762886C>G ATP6V0A4(NM_020632.3):c.417+14G>C - ATP6V0A4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.620dup r.(?) p.(Leu208Serfs*33) Unknown - likely pathogenic g.138444519dup g.138759774dup ATP6V0A4(NM_020632.2):c.1180G>A(p.A394T)/c.620_621insC(p.L208Sfs*33 ) - ATP6V0A4_000047 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 108 - - - DNA SEQ-NG-I blood - ? WHP8 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. - c.639+1G>A r.spl? p.? Unknown - pathogenic g.138444496C>T - - - ATP6V0A4_000036 - - - - Germline - - - - - DNA SEQ-NG - - RTADR 16 - - F - China - - - - - 1 Sha Hong
-?/. - c.816+19C>T r.(=) p.(=) Unknown - likely benign g.138440415G>A - ATP6V0A4(NM_020632.3):c.816+19C>T - ATP6V0A4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.(829del) r.(?) p.(Thr277Glnfs*26) Unknown - pathogenic g.138437572del g.138752827del Q276fs - ATP6V0A4_000000 - PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0007 - - Germline yes - - - - DNA SEQ - - RTADR - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - >13y - - - 1 Johan den Dunnen
?/. - c.863C>A r.(?) p.(Ala288Asp) Unknown - VUS g.138437536G>T g.138752791G>T - - ATP6V0A4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002T>C r.(?) p.(Arg334=) Unknown - likely benign g.138437397A>G - ATP6V0A4(NM_020632.2):c.1002T>C (p.R334=) - ATP6V0A4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1030-14T>A r.(=) p.(=) Unknown - benign g.138434076A>T - ATP6V0A4(NM_020632.2):c.1030-14T>A (p.(=)) - ATP6V0A4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1030-5del r.spl? p.? Unknown - benign g.138434080del g.138749335del ATP6V0A4(NM_020632.2):c.1030-5del (p.?), ATP6V0A4(NM_020632.2):c.1030-5delT, ATP6V0A4(NM_020632.3):c.1030-5delT - ATP6V0A4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1030-5del r.spl? p.? Unknown - benign g.138434080del g.138749335del ATP6V0A4(NM_020632.2):c.1030-5del (p.?), ATP6V0A4(NM_020632.2):c.1030-5delT, ATP6V0A4(NM_020632.3):c.1030-5delT - ATP6V0A4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1030-5del r.spl? p.? Unknown - benign g.138434080del g.138749335del ATP6V0A4(NM_020632.2):c.1030-5del (p.?), ATP6V0A4(NM_020632.2):c.1030-5delT, ATP6V0A4(NM_020632.3):c.1030-5delT - ATP6V0A4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1030-5del r.spl p.(?) Unknown ACMG VUS g.138434080del g.138749335del ATP6V0A4 c.1030-6T>-, spl - ATP6V0A4_000017 c.1030-6delT automapped to c.1030-5del, heterozygous; unsolved PubMed: Zacchia 2021 - - Unknown ? - - - - DNA SEQ-NG blood 115 genes causing different inherited kidney diseases retinal disease K102 PubMed: Zacchia 2021 - ? - (Italy) - - - - - 1 LOVD
-?/. - c.1030-5dup r.spl? p.? Unknown - likely benign g.138434080dup - ATP6V0A4(NM_020632.3):c.1030-5dupT - ATP6V0A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1033C>A r.(?) p.(Leu345Ile) Parent #1 - benign g.138434059G>T g.138749314G>T - - ATP6V0A4_000035 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61747674 Germline - 10/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
+?/. - c.1180G>A r.(?) p.(Ala394Thr) Unknown - likely pathogenic g.138433912C>T g.138749167C>T ATP6V0A4(NM_020632.2):c.1180G>A(p.A394T)/c.620_621insC(p.L208Sfs*33 ) - ATP6V0A4_000046 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 108 - - - DNA SEQ-NG-I blood - ? WHP8 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. - c.1185del r.(?) p.(Tyr396ThrfsTer12) Unknown - pathogenic g.138432309del g.138747564del ATP6V0A4(NM_020632.3):c.1185delC (p.Y396Tfs*12) - ATP6V0A4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1345C>T r.(?) p.(Arg449Cys) Unknown - VUS g.138430001G>A g.138745256G>A - - ATP6V0A4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1346G>A r.(?) p.(Arg449His) Unknown - likely pathogenic g.138430000C>T g.138745255C>T - - ATP6V0A4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1475G>A r.(?) p.(Trp492Ter) Unknown - pathogenic g.138429871C>T g.138745126C>T - - ATP6V0A4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1478+2T>G r.spl? p.? Unknown - pathogenic g.138429866A>C - ATP6V0A4(NM_020632.3):c.1478+2T>G - ATP6V0A4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1478+2T>G r.spl? p.? Unknown - pathogenic g.138429866A>C - ATP6V0A4(NM_020632.3):c.1478+2T>G - ATP6V0A4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1478+17A>G r.(=) p.(=) Unknown - benign g.138429851T>C g.138745106T>C ATP6V0A4(NM_020632.3):c.1478+17A>G - ATP6V0A4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1478+17A>G r.(=) p.(=) Unknown - benign g.138429851T>C g.138745106T>C ATP6V0A4(NM_020632.3):c.1478+17A>G - ATP6V0A4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1498A>G r.(?) p.(Ser500Gly) Unknown - likely benign g.138424359T>C - ATP6V0A4(NM_020632.3):c.1498A>G (p.S500G) - ATP6V0A4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1557G>A r.(?) p.(Pro519=) Unknown - benign g.138424300C>T g.138739555C>T ATP6V0A4(NM_020632.3):c.1557G>A (p.P519=) - ATP6V0A4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1571C>T r.(?) p.(Pro524Leu) Both (homozygous) - pathogenic g.138424286G>A g.138739541G>A P524L - ATP6V0A4_000003 - PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0008 - - Germline yes rs121908368 - - - DNA SEQ - - RTADR - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - >03y - - - 1 Johan den Dunnen
-?/. - c.1641G>A r.(?) p.(Leu547=) Unknown - likely benign g.138418931C>T - ATP6V0A4(NM_020632.3):c.1641G>A (p.L547=) - ATP6V0A4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.1662C>T r.(=) p.(Phe554=) Parent #1 - benign g.138418910G>A g.138734165G>A T>C (F554F) - ATP6V0A4_000009 etnically matched controls PubMed: Smith 2000, Journal: Smith 2000 - - Germline - 0.68 controls - - - - - - - - - - - - - - - - - - - - -
-/. - c.1662C>T r.(?) p.(Phe554=) Unknown - benign g.138418910G>A g.138734165G>A ATP6V0A4(NM_020632.3):c.1662C>T (p.F554=) - ATP6V0A4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1662C>T r.(?) p.(Phe554=) Unknown - benign g.138418910G>A g.138734165G>A ATP6V0A4(NM_020632.3):c.1662C>T (p.F554=) - ATP6V0A4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16i c.1691+1G>A r.spl p.? Both (homozygous) - pathogenic g.138418880C>T g.138734135C>T IVS17+1G>A - ATP6V0A4_000007 - PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0003 - rs587776615 Germline yes - - - - DNA SEQ - - RTADR - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - >22y - - - 1 Johan den Dunnen
+/. - c.1691+1G>A r.spl? p.? Unknown - pathogenic g.138418880C>T g.138734135C>T - - ATP6V0A4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.1739T>C r.(?) p.(Met580Thr) Both (homozygous) - pathogenic g.138417791A>G g.138733046A>G M580T - ATP6V0A4_000005 - PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0005 - rs3807153 Germline yes - - - - DNA SEQ - - RTADR - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - >04y - - - 1 Johan den Dunnen
-/. - c.1739T>C r.(?) p.(Met580Thr) Unknown - benign g.138417791A>G g.138733046A>G ATP6V0A4(NM_020632.3):c.1739T>C (p.M580T) - ATP6V0A4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 17 c.1812T>C r.(=) p.(His604=) Unknown - benign g.138417718A>G g.138732973A>G C>T (H604H) - ATP6V0A4_000010 ethnically matched controls PubMed: Smith 2000, Journal: Smith 2000 - - Germline - 0.68 controls - - - - - - - - - - - - - - - - - - - - -
-/. - c.1812T>C r.(?) p.(His604=) Unknown - benign g.138417718A>G g.138732973A>G ATP6V0A4(NM_020632.3):c.1812T>C (p.H604=) - ATP6V0A4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1812T>C r.(?) p.(His604=) Unknown - benign g.138417718A>G g.138732973A>G ATP6V0A4(NM_020632.3):c.1812T>C (p.H604=) - ATP6V0A4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1888G>A r.(?) p.(Ala630Thr) Unknown - benign g.138417642C>T g.138732897C>T - - ATP6V0A4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1908+24_1908+25del r.(=) p.(=) Unknown - likely benign g.138417608_138417609del g.138732863_138732864del ATP6V0A4(NM_020632.3):c.1908+24_1908+25delTT - ATP6V0A4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1908+25del r.(=) p.(=) Unknown - likely benign g.138417609del g.138732864del ATP6V0A4(NM_020632.3):c.1908+25delT - ATP6V0A4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1908+25dup r.(=) p.(=) Unknown - benign g.138417609dup g.138732864dup ATP6V0A4(NM_020632.3):c.1908+25dupT - ATP6V0A4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2035G>T r.(?) p.(Asp679Tyr) Unknown - benign g.138406746C>A - - - ATP6V0A4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2113G>A r.(?) p.(Gly705Arg) Unknown - likely benign g.138406668C>T - ATP6V0A4(NM_020632.2):c.2113G>A (p.(Gly705Arg)) - ATP6V0A4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2140-9G>A r.(=) p.(=) Unknown - likely benign g.138400635C>T - ATP6V0A4(NM_020632.2):c.2140-9G>A, ATP6V0A4(NM_020632.3):c.2140-9G>A - ATP6V0A4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2140-9G>A r.(=) p.(=) Unknown - likely benign g.138400635C>T - ATP6V0A4(NM_020632.2):c.2140-9G>A, ATP6V0A4(NM_020632.3):c.2140-9G>A - ATP6V0A4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.2257C>T r.(spl?) p.(Gln753*?) Both (homozygous) - pathogenic g.138400509G>A g.138715764G>A Q753X - ATP6V0A4_000002 - PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0001 - rs121908367 Germline yes 1/9 cases - - - DNA SEQ - - RTADR - PubMed: Smith 2000, Journal: Smith 2000 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - >10y - - - 1 Johan den Dunnen
-?/. - c.2306C>T r.(?) p.(Thr769Met) Unknown - likely benign g.138394492G>A - ATP6V0A4(NM_020632.3):c.2306C>T (p.T769M) - ATP6V0A4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2412C>T r.(?) p.(His804=) Unknown - likely benign g.138394386G>A - ATP6V0A4(NM_020632.2):c.2412C>T (p.H804=) - ATP6V0A4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2419C>T r.(?) p.(Arg807Ter) Unknown - pathogenic g.138394379G>A g.138709634G>A - - ATP6V0A4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.2458G>A r.(?) p.(Gly820Arg) Both (homozygous) - pathogenic g.138391434C>T g.138706689C>T G>A (G820R) - ATP6V0A4_000008 - PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0002 - rs267606671 Germline yes - - - - DNA SEQ - - RTADR - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - >06y06m - - - 1 Johan den Dunnen
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