NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: dowling-degos disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770992098
rs770992098
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C3714534
Disease:
dowling-degos disease 		0.010 GeneticVariation BEFREE First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). 30859559 2019