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Details for MYH7:c.2863G>A, p.Asp955Asn

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
23893175	23423966

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2863G>A

PROTEIN CHANGE

p.Asp955Asn

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
3.976e-06	0.0	0.0	0.0	0.0	0.0	8.79e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.316818	Disease causing

DBSNP ID

1 combination linked to MYH7:c.2863G>A, p.Asp955Asn

1 disease linked to MYH7:c.2863G>A, p.Asp955Asn

Dilated cardiomyopathy

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