Details for AR:c.1175C>G, p.Pro392Arg

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6676616367546321
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AR
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_000044.6
CDNA CHANGE c.1175C>G
PROTEIN CHANGE p.Pro392Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00030.00.00.00130.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.401e-050.00.00.00.00.03.383e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.743279Polymorphism
DBSNP ID rs773996740
1 combination linked to AR:c.1175C>G, p.Pro392Arg OLI1001
2 diseases linked to AR:c.1175C>G, p.Pro392Arg Androgen insensitivity syndrome; 46,XY disorder of sex development
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