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Details for KCNH2:c.934C>T, p.Arg312Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150654573	150957485

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.934C>T

PROTEIN CHANGE

p.Arg312Cys

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
9.99e-05	0.0	0.0005791	9.954e-05	0.0001089	0.0	1.771e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.17011	Disease causing

DBSNP ID

1 combination linked to KCNH2:c.934C>T, p.Arg312Cys

1 disease linked to KCNH2:c.934C>T, p.Arg312Cys

Familial long QT syndrome

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