DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs587777420 ×

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:

rs587777420

NECAP1

0.710

GeneticVariation

BEFREE

There has been only one previous report of a mutation in NECAP1 in a family with EIEE; this was a nonsense mutation (p.R48*) that was cited as EIEE21.

30626896

2019

dbSNP:

rs587777420

NECAP1

0.710

GeneticVariation

CLINVAR