Details for BMP2:c.393A>T, p.Arg131Ser

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
67589386778291
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BMP2
REFERENCE ALLELE A
ALTERNATE ALLELE T
TRANSCRIPT NM_001200
CDNA CHANGE c.393A>T
PROTEIN CHANGE p.Arg131Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00060680.02.958e-050.00.0016980.0040760.00014220.00.0004778

ESP
AAEA
0.00.0003488
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.317731Disease causing
DBSNP ID rs140417301
1 combination linked to BMP2:c.393A>T, p.Arg131Ser OLI1006
2 diseases linked to BMP2:c.393A>T, p.Arg131Ser Androgen insensitivity syndrome; 46,XY disorder of sex development
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