GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATP6V0A4 V2Ainsufficiently evaluated none, f=0.735unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ATP6V0A4 M350Vinsufficiently evaluated none, f=0.002unknown var-GS18517-1100-36-ASM
ATP6V0A4 T462Ainsufficiently evaluated not reviewedunknown
ATP6V0A4 Y502Xinsufficiently evaluated pathogenicunknown

(4 web hits)

ATP6V0A4 P524Linsufficiently evaluated pathogenicunknown

(1 web hit)

ATP6V0A4 R568Tinsufficiently evaluated not reviewedunknown CGI sample GS000005532
ATP6V0A4 M580Tinsufficiently evaluated pathogenic, f=0.098recessive

This was observed in a patient with distal renal tubular acidosis, but frequency in 1000 genomes and HapMap (7% and 12.5%) means this variant is likely benign.

Distal renal tubular acidosis occurs when the alpha intercalated cells of the cortical collecting duct fail to secrete acid, and consequently, the body retains such acid. The acid retention in turn givew rise to symptoms such as hypokalemia, Urinary stone formation, nephrocalcinosis (deposition of calcium in the substance of the kidney), and bone demineralisation (causing rickets in children and osteomalacia in adults).

(3 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS000006909
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
ATP6V0A4 D626Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
ATP6V0A4 A630Tinsufficiently evaluated none, f=0.036unknown var-GS19025-1100-36-ASM
var-GS18942-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
ATP6V0A4 Q637Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS18502-1100-36-ASM
ATP6V0A4 D679Yinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
ATP6V0A4 E753Xinsufficiently evaluated pathogenicunknown
ATP6V0A4 T769Minsufficiently evaluated not reviewed, f=0.016unknown var-GS19701-1100-36-ASM
ATP6V0A4 R807Qinsufficiently evaluated pathogenicunknown

(8 web hits)

ATP6V0A4 D835Einsufficiently evaluated noneunknown
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Total results: 15

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