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Details for MYOM1:c.4357A>T, p.Met1453Leu

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
3084008	3084010

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4357A>T

PROTEIN CHANGE

p.Met1453Leu

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
0.0001022	0.0	0.0	0.0	0.0	0.0001041	0.0002141	0.0	0.0

ESP
AA	EA
0.0	0.000244

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.721313	Polymorphism

DBSNP ID

1 combination linked to MYOM1:c.4357A>T, p.Met1453Leu

1 disease linked to MYOM1:c.4357A>T, p.Met1453Leu

Amyotrophic lateral sclerosis

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