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Details for KCNH2:c.2842C>T, p.Arg948Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150644817	150947729

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2842C>T

PROTEIN CHANGE

p.Arg948Cys

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
6.018e-05	0.0	0.0	0.0	0.0	0.0	2.933e-05	0.0	0.0003248

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.068894	Disease causing

DBSNP ID

1 combination linked to KCNH2:c.2842C>T, p.Arg948Cys

1 disease linked to KCNH2:c.2842C>T, p.Arg948Cys

Familial long QT syndrome

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