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Details for KCNQ1:c.1022C>T, p.Ala341Val

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
2604765	2583535

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1022C>T

PROTEIN CHANGE

p.Ala341Val

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
Deleterious	Damaging	3.79106	Disease causing

DBSNP ID

1 combination linked to KCNQ1:c.1022C>T, p.Ala341Val

1 disease linked to KCNQ1:c.1022C>T, p.Ala341Val

Familial long QT syndrome

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