Details for WDPCP:c.83A>T, p.Asp28Val

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
6372006763492933
VARIANT EFFECT None
ANNOTATION FLAG None
GENE WDPCP
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_015910.5
CDNA CHANGE c.83A>T
PROTEIN CHANGE p.Asp28Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00640.00.00.01980.00.0123

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0015960.00026262.908e-050.00.014840.02.681e-050.0021620.003541

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.91221Polymorphism
DBSNP ID NA
1 combination linked to WDPCP:c.83A>T, p.Asp28Val OLI1660
1 disease linked to WDPCP:c.83A>T, p.Asp28Val Bardet-Biedl syndrome
Found any issues with the data on this page? Report this entry.