Details for AR:c.1768G>C, p.Gly590Arg

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6686324967643407
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AR
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000044.6
CDNA CHANGE c.1768G>C
PROTEIN CHANGE p.Gly590Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging6.616492Disease causing
DBSNP ID NA
1 combination linked to AR:c.1768G>C, p.Gly590Arg OLI997
2 diseases linked to AR:c.1768G>C, p.Gly590Arg Androgen insensitivity syndrome; 46,XY disorder of sex development
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