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Details for DES:c.1503G>A, p.Val469Met

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
220290704	219425982

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1503G>A

PROTEIN CHANGE

p.Val469Met

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.521235	Disease causing

DBSNP ID

1 combination linked to DES:c.1503G>A, p.Val469Met

1 disease linked to DES:c.1503G>A, p.Val469Met

Emery-Dreifuss muscular dystrophy

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