Details for POR:c.1876G>A, p.Gly626Ser

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
7561553775986219
VARIANT EFFECT None
ANNOTATION FLAG None
GENE POR
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000941.3
CDNA CHANGE c.1876G>A
PROTEIN CHANGE p.Gly626Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.7e-050.00019622.905e-050.00.00077970.03.581e-050.00016623.272e-05

ESP
AAEA
0.00024130.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign1.517484Polymorphism
DBSNP ID rs369181144
1 combination linked to POR:c.1876G>A, p.Gly626Ser OLI997
2 diseases linked to POR:c.1876G>A, p.Gly626Ser Androgen insensitivity syndrome; 46,XY disorder of sex development
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