Details for SLC45A2:c.478G>C, p.Asp160His

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
3398242533982320
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SLC45A2
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_001297417.2
CDNA CHANGE c.478G>C
PROTEIN CHANGE p.Asp160His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.977e-060.00.00.05.437e-050.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.046414Disease causing
DBSNP ID rs760780597
2 combinations linked to SLC45A2:c.478G>C, p.Asp160His OLI070; OLI071
1 disease linked to SLC45A2:c.478G>C, p.Asp160His Oculocutaneous albinism
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