Details for AR:c.2667C>T, p.Ser889=

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6694358767723745
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000044.6
CDNA CHANGE c.2667C>T
PROTEIN CHANGE p.Ser889=
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.21221Disease causing
DBSNP ID rs137852594
1 combination linked to AR:c.2667C>T, p.Ser889= OLI999
2 diseases linked to AR:c.2667C>T, p.Ser889= Androgen insensitivity syndrome; 46,XY disorder of sex development

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