Details for AR:c.884T>C, p.Leu295Pro

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6676587267546030
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AR
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_000044.6
CDNA CHANGE c.884T>C
PROTEIN CHANGE p.Leu295Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.636e-050.00.00.00.00014430.01.222e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging2.755055Polymorphism
DBSNP ID rs745333161|
1 combination linked to AR:c.884T>C, p.Leu295Pro OLI998
2 diseases linked to AR:c.884T>C, p.Leu295Pro Androgen insensitivity syndrome; 46,XY disorder of sex development
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