Details for ATP2B2:c.1756G>A, p.Val586Met

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
1040157610359892
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE ATP2B2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001683.5
CDNA CHANGE c.1756G>A
PROTEIN CHANGE p.Val586Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0080.00.04180.00.0070.0041

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.011470.0025230.047699.929e-050.00010880.0017090.0084010.010270.004377

ESP
AAEA
0.0015890.007209
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.58634Polymorphism
DBSNP ID rs61736451
1 combination linked to ATP2B2:c.1756G>A, p.Val586Met OLI497
1 disease linked to ATP2B2:c.1756G>A, p.Val586Met Non-syndromic genetic deafness
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