DisGeNET - a database of gene-disease associations

Congenital long QT syndrome, C1141890

Variant: rs137854601 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137854601

SCN5A

0.700

CausalMutation

CLINVAR

High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

24871449

2014

dbSNP:

rs137854601

SCN5A

0.700

CausalMutation

CLINVAR

Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.

21321465

2011

dbSNP:

rs137854601

SCN5A

0.700

CausalMutation

CLINVAR

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.

18451998

2008

dbSNP:

rs137854601

SCN5A

0.700

CausalMutation

CLINVAR

Gene sequencing in neonates and infants with the long QT syndrome.

16379539

2005

dbSNP:

rs137854601

SCN5A

0.700

CausalMutation

CLINVAR

Natural history of Brugada syndrome: insights for risk stratification and management.

11901046

2002

dbSNP:

rs137854601

SCN5A

0.700

CausalMutation

CLINVAR

Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.

10727653

2000

dbSNP:

rs137854601

SCN5A

0.700

CausalMutation

CLINVAR

Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

10377081

1999