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Details for MYH7:c.4031G>A, p.Arg1344Gln

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
23887557	23418348

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.4031G>A

PROTEIN CHANGE

p.Arg1344Gln

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
1.195e-05	0.0	2.893e-05	0.0	0.0	0.0	8.819e-06	0.0	3.268e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.480887	Disease causing

DBSNP ID

1 combination linked to MYH7:c.4031G>A, p.Arg1344Gln

1 disease linked to MYH7:c.4031G>A, p.Arg1344Gln

Left ventricular noncompaction

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