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Details for KCNQ1:c.502G>C, p.Gly168Arg

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
2591882	2570652

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.502G>C

PROTEIN CHANGE

p.Gly168Arg

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
4.006e-06	0.0	0.0	0.0	0.0	0.0	8.861e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.896806	Disease causing

DBSNP ID

1 combination linked to KCNQ1:c.502G>C, p.Gly168Arg

1 disease linked to KCNQ1:c.502G>C, p.Gly168Arg

Familial long QT syndrome

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