Details for DACT1:c.2035T>C, p.Trp679Arg

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
5911337658646658
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DACT1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_016651.5
CDNA CHANGE c.2035T>C
PROTEIN CHANGE p.Trp679Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00058686.96e-050.00032120.00.00.0016820.00068310.00051020.0005899

ESP
AAEA
0.00.0004715
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.939253Polymorphism
DBSNP ID rs200977826
1 combination linked to DACT1:c.2035T>C, p.Trp679Arg OLI760
1 disease linked to DACT1:c.2035T>C, p.Trp679Arg Isolated anencephaly
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