Details for WNT9B:c.134C>T, p.Pro45Leu

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
4494993946872573
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE WNT9B
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003396.2
CDNA CHANGE c.134C>T
PROTEIN CHANGE p.Pro45Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00150.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.1e-050.00019590.00.00.00.09.344e-060.00017330.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging1.694117Polymorphism
DBSNP ID rs530502749
1 combination linked to WNT9B:c.134C>T, p.Pro45Leu OLI604
1 disease linked to WNT9B:c.134C>T, p.Pro45Leu Disorder of sex development
Found any issues with the data on this page? Report this entry.