Details for SRD5A2:c.680G>A, p.Arg227Gln

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
3175439531529325
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SRD5A2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000348.3
CDNA CHANGE c.680G>A
PROTEIN CHANGE p.Arg227Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00.00690.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0004740.00.00.00.0065250.08.862e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.775865Polymorphism
DBSNP ID rs9332964
1 combination linked to SRD5A2:c.680G>A, p.Arg227Gln OLI1003
2 diseases linked to SRD5A2:c.680G>A, p.Arg227Gln Androgen insensitivity syndrome; 46,XY disorder of sex development
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