Details for AR:c.2227A>G, p.Met743Val

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6693737367717531
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AR
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000044.6
CDNA CHANGE c.2227A>G
PROTEIN CHANGE p.Met743Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.763815Disease causing
DBSNP ID NA
1 combination linked to AR:c.2227A>G, p.Met743Val OLI1005
2 diseases linked to AR:c.2227A>G, p.Met743Val Androgen insensitivity syndrome; 46,XY disorder of sex development

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