Details for BNC2:c.1868C>A, p.Pro623His

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
1643632416436326
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BNC2
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_017637.5
CDNA CHANGE c.1868C>A
PROTEIN CHANGE p.Pro623His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00520.01740.00290.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0020920.011630.0014180.0001990.00.00073920.0022160.0029430.0

ESP
AAEA
0.012260.001395
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.095735Polymorphism
DBSNP ID rs114596065
2 combinations linked to BNC2:c.1868C>A, p.Pro623His OLI601; OLI602
1 disease linked to BNC2:c.1868C>A, p.Pro623His Disorder of sex development
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