Details for DSC2:c.2398del, p.Ala800LeufsTer56

CHROMOSOME 18
GENOMIC COORDINATES
hg19hg38
2864896931069003
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DSC2
REFERENCE ALLELE GC
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.2398del
PROTEIN CHANGE p.Ala800LeufsTer56
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.994824Disease causing
DBSNP ID NA
1 combination linked to DSC2:c.2398del, p.Ala800LeufsTer56 OLI1800
1 disease linked to DSC2:c.2398del, p.Ala800LeufsTer56 Dilated cardiomyopathy
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