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Details for DSC2:

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
28647999	31068033

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

TTC

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.0	0.0086	0.0	0.0099	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.008435	0.002399	0.005609	0.001886	5.441e-05	0.009151	0.01337	0.009622	0.002973

ESP
AA	EA
0.002111	0.01345

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.397614	Polymorphism

DBSNP ID

1 combination linked to DSC2:

2 diseases linked to DSC2:

Hypertrophic cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy

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