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Details for KCNH2:c.1933A>C, p.Met645Leu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150648548	150951460

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1933A>C

PROTEIN CHANGE

p.Met645Leu

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	Benign	3.527065	Disease causing

DBSNP ID

1 combination linked to KCNH2:c.1933A>C, p.Met645Leu

1 disease linked to KCNH2:c.1933A>C, p.Met645Leu

Familial long QT syndrome

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