Details for AR:c.2521C>T, p.Arg841Cys

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6694274067722898
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000044.6
CDNA CHANGE c.2521C>T
PROTEIN CHANGE p.Arg841Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.327852Disease causing
DBSNP ID rs137852577
2 combinations linked to AR:c.2521C>T, p.Arg841Cys OLI1000; OLI1001
2 diseases linked to AR:c.2521C>T, p.Arg841Cys Androgen insensitivity syndrome; 46,XY disorder of sex development
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