Details for WNT9B:c.454G>A, p.Glu152Lys

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
4495258646875220
VARIANT EFFECT None
ANNOTATION FLAG None
GENE WNT9B
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001320458
CDNA CHANGE c.454G>A
PROTEIN CHANGE p.Glu152Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00054920.00018488.675e-059.932e-050.00.00018480.00110.00032620.0

ESP
AAEA
0.00.000814
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.362819Polymorphism
DBSNP ID rs149949310
1 combination linked to WNT9B:c.454G>A, p.Glu152Lys OLI1144
1 disease linked to WNT9B:c.454G>A, p.Glu152Lys Mayer-Rokitansky-Küster-Hauser syndrome
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