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Details for MYH7:c.481G>A, p.Ala161Thr

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
23901869	23432660

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.481G>A

PROTEIN CHANGE

p.Ala161Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0008	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.193e-05	6.152e-05	0.0	0.0	0.0	0.0	0.0	0.0	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.115348	Disease causing

DBSNP ID

1 combination linked to MYH7:c.481G>A, p.Ala161Thr

1 disease linked to MYH7:c.481G>A, p.Ala161Thr

Left ventricular noncompaction

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