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Details for MYO15A:c.5866C>T, p.Arg1956Trp

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
18046110	18142796

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.5866C>T

PROTEIN CHANGE

p.Arg1956Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002832	0.0001312	0.0001162	0.0	0.0	0.0	0.0005368	0.0006705	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.853	Disease causing

DBSNP ID

1 combination linked to MYO15A:c.5866C>T, p.Arg1956Trp

1 disease linked to MYO15A:c.5866C>T, p.Arg1956Trp

Hypoplastic left heart syndrome

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