NECAP1, NECAP endocytosis associated 1, 25977

N. diseases: 55; N. variants: 1
Disease: X-linked infantile spasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777420
rs587777420
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1
CUI: C4552072
Disease:
X-linked infantile spasms 		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
rs587777420
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1
CUI: C4552072
Disease:
X-linked infantile spasms 		T 0.710 GeneticVariation CLINVAR