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Details for MYH7:c.4343A>T, p.Asn1448Ile

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
23886722	23417513

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4343A>T

PROTEIN CHANGE

p.Asn1448Ile

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
6.365e-05	0.0	0.0	0.0	0.0	4.619e-05	0.000132	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.810451	Disease causing

DBSNP ID

1 combination linked to MYH7:c.4343A>T, p.Asn1448Ile

1 disease linked to MYH7:c.4343A>T, p.Asn1448Ile

Hypertrophic cardiomyopathy

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