Details for SRD5A2:c.537G>A, p.Arg179Ser

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
3175645131531381
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SRD5A2
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000348.4
CDNA CHANGE c.537G>A
PROTEIN CHANGE p.Arg179Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.48e-050.00.00.00.00.03.43e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.437968Polymorphism
DBSNP ID NA
1 combination linked to SRD5A2:c.537G>A, p.Arg179Ser OLI1518
1 disease linked to SRD5A2:c.537G>A, p.Arg179Ser 46,XY disorder of sex development
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