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.2582A>C, p.Asn861Thr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150645954	150948866

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2582A>C

PROTEIN CHANGE

p.Asn861Thr

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	4.013461	Disease causing

DBSNP ID

1 combination linked to KCNH2:c.2582A>C, p.Asn861Thr

1 disease linked to KCNH2:c.2582A>C, p.Asn861Thr

Familial long QT syndrome

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