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Details for KCNH2:c.323G>A, p.Cys108Tyr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150656809	150959721

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.323G>A

PROTEIN CHANGE

p.Cys108Tyr

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	Damaging	3.874244	Disease causing

DBSNP ID

3 combinations linked to KCNH2:c.323G>A, p.Cys108Tyr

OLI549; OLI550; OLI551

1 disease linked to KCNH2:c.323G>A, p.Cys108Tyr

Familial long QT syndrome

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