Details for AR:c.2612C>T, p.Ala871Val

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6694353267723690
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000044.6
CDNA CHANGE c.2612C>T
PROTEIN CHANGE p.Ala871Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.104e-050.00015210.00.00.00.00.00.00.0

ESP
AAEA
0.00026080.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.743217Disease causing
DBSNP ID rs143040492
1 combination linked to AR:c.2612C>T, p.Ala871Val OLI1004
2 diseases linked to AR:c.2612C>T, p.Ala871Val Androgen insensitivity syndrome; 46,XY disorder of sex development
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