Details for CLCN3:c.1952A>C, p.Asp651Ala

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
170628301169707150
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CLCN3
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.1952A>C
PROTEIN CHANGE p.Asp651Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.509703Polymorphism
DBSNP ID NA
1 combination linked to CLCN3:c.1952A>C, p.Asp651Ala OLI1707
1 disease linked to CLCN3:c.1952A>C, p.Asp651Ala Rare pervasive developmental disorder
Found any issues with the data on this page? Report this entry.