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Details for MYO5A:c.2401C>T, p.Arg801Trp

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
52668563	52376366

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2401C>T

PROTEIN CHANGE

p.Arg801Trp

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
1.205e-05	6.458e-05	0.0	0.0	0.0	0.0	1.772e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.877492	Polymorphism

DBSNP ID

2 combinations linked to MYO5A:c.2401C>T, p.Arg801Trp

OLI1802; OLI1803

1 disease linked to MYO5A:c.2401C>T, p.Arg801Trp

Hypoplastic left heart syndrome

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