Details for OCA2:c.954G>A, p.Met318Ile

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
2826001228014866
VARIANT EFFECT None
ANNOTATION FLAG None
GENE OCA2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.954G>A
PROTEIN CHANGE p.Met318Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00.00.00.0051

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00047760.00.00.00.00.00.00.00016310.003887

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.237631Polymorphism
DBSNP ID NA
2 combinations linked to OCA2:c.954G>A, p.Met318Ile OLI1098; OLI1099
1 disease linked to OCA2:c.954G>A, p.Met318Ile Oculocutaneous albinism
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