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Details for MYH11:c.5890G>C, p.Glu1964Gln

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
15797898	15704041

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.5890G>C

PROTEIN CHANGE

p.Glu1964Gln

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
4.772e-05	0.0	0.0	0.0	0.0	4.619e-05	9.669e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.94115	Polymorphism

DBSNP ID

1 combination linked to MYH11:c.5890G>C, p.Glu1964Gln

1 disease linked to MYH11:c.5890G>C, p.Glu1964Gln

Amyotrophic lateral sclerosis

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