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Details for KCNH2:p.Ala913Val

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150644921	150947833

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala913Val

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
0.0003999	0.0	0.0	0.0	0.0	0.002263	0.0007652	0.0002684	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.014584	Disease causing

DBSNP ID

1 combination linked to KCNH2:p.Ala913Val

1 disease linked to KCNH2:p.Ala913Val

Familial long QT syndrome

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