DisGeNET - a database of gene-disease associations

Timothy syndrome, C1832916

Variant: rs80315385 ×

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:

rs80315385

rs80315385

CACNA1C

0.710

GeneticVariation

BEFREE

Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2).

2013

dbSNP:

rs80315385

rs80315385

CACNA1C

A

0.710

CausalMutation

CLINVAR