Details for DSP:c.38C>T, p.Thr13Ile

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
75421867541953
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE DSP
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004415.2
CDNA CHANGE c.38C>T
PROTEIN CHANGE p.Thr13Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.892e-050.00.00.00.00051140.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.898414Polymorphism
DBSNP ID rs201133637
1 combination linked to DSP:c.38C>T, p.Thr13Ile OLI547
1 disease linked to DSP:c.38C>T, p.Thr13Ile Arrhythmogenic right ventricular cardiomyopathy
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