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Details for KCNH2:c.2764C>T, p.Arg922Trp

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150644895	150947807

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2764C>T

PROTEIN CHANGE

p.Arg922Trp

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
2.365e-05	0.0	0.0	0.0001314	0.0	0.0	2.137e-05	0.0002564	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	4.34546	Polymorphism

DBSNP ID

1 combination linked to KCNH2:c.2764C>T, p.Arg922Trp

1 disease linked to KCNH2:c.2764C>T, p.Arg922Trp

Familial long QT syndrome

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