Details for BMP4:c.806G>A, p.Arg269Gln

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
5441717153950453
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BMP4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_130851.3
CDNA CHANGE c.806G>A
PROTEIN CHANGE p.Arg269Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0010.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00030310.00.00017350.00.003320.08.817e-060.00.0002613

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.749599Disease causing
DBSNP ID rs534215890
1 combination linked to BMP4:c.806G>A, p.Arg269Gln OLI997
2 diseases linked to BMP4:c.806G>A, p.Arg269Gln Androgen insensitivity syndrome; 46,XY disorder of sex development
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