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Details for DSP:c.1282_1283insA, p.Asn428Ter

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
7568681	7568448

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

GA

TRANSCRIPT

CDNA CHANGE

c.1282_1283insA

PROTEIN CHANGE

p.Asn428Ter

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.949975	Disease causing

DBSNP ID

1 combination linked to DSP:c.1282_1283insA, p.Asn428Ter

1 disease linked to DSP:c.1282_1283insA, p.Asn428Ter

Arrhythmogenic right ventricular cardiomyopathy

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