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Details for DSP:c.740C>T, p.Ala247Val

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
7563982	7563749

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.740C>T

PROTEIN CHANGE

p.Ala247Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.386e-05	0.0003076	0.0	0.0	0.0	0.0	8.795e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.411767	Disease causing

DBSNP ID

1 combination linked to DSP:c.740C>T, p.Ala247Val

1 disease linked to DSP:c.740C>T, p.Ala247Val

Dilated cardiomyopathy

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