Details for WNT9B:c.973C>T, p.Arg325Cys

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
4495398346876617
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE WNT9B
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003396.2
CDNA CHANGE c.973C>T
PROTEIN CHANGE p.Arg325Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.459e-050.00.00011620.00.00038730.04.487e-050.00.0

ESP
AAEA
0.0002270.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.323893Polymorphism
DBSNP ID rs369957679
1 combination linked to WNT9B:c.973C>T, p.Arg325Cys OLI028
1 disease linked to WNT9B:c.973C>T, p.Arg325Cys Müllerian aplasia

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