This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for KCNH2:c.132C>A, p.Cys44Ter

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150671974	150974886

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.132C>A

PROTEIN CHANGE

p.Cys44Ter

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
None	None	6.599439	Disease causing

DBSNP ID

1 combination linked to KCNH2:c.132C>A, p.Cys44Ter

1 disease linked to KCNH2:c.132C>A, p.Cys44Ter

Familial long QT syndrome

Found any issues with the data on this page? Report this entry.