Details for OCA2:c.79G>A, p.Gly27Arg

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
2832694228081796
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE OCA2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000275.2
CDNA CHANGE c.79G>A
PROTEIN CHANGE p.Gly27Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00280.00980.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0013690.014160.00061230.008325.524e-054.71e-050.00012010.001353.281e-05

ESP
AAEA
0.015910.0003495
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.729704Disease causing
DBSNP ID rs61738394
1 combination linked to OCA2:c.79G>A, p.Gly27Arg OLI220
1 disease linked to OCA2:c.79G>A, p.Gly27Arg Ocular albinism
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