Details for AR:c.528C>A, p.Ser176Arg

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6676551667545674
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AR
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000044.6
CDNA CHANGE c.528C>A
PROTEIN CHANGE p.Ser176Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00050.00.00.00260.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00066340.00.00.00.0082870.00.00.00024460.0001198

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.768754Polymorphism
DBSNP ID rs777131133
2 combinations linked to AR:c.528C>A, p.Ser176Arg OLI1002; OLI1003
2 diseases linked to AR:c.528C>A, p.Ser176Arg Androgen insensitivity syndrome; 46,XY disorder of sex development
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