KEGG   VARIANT: 1289v1
Entry
1289v1                      Variant                                
Name
COL5A1 mutation
Gene
COL5A1  collagen type V alpha 1 chain [KO:K19721]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120215
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00802  Ehlers-Danlos syndrome
H02719  Multifocal fibromuscular dysplasia
Reference
  Authors
Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, Coucke P, De Paepe A
  Title
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
  Journal
Hum Mutat 33:1485-93 (2012)
DOI:10.1002/humu.22137
Reference
  Authors
Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, Brummett CM, Abecasis G, Bergin IL, Stanley JC, Li JZ, Ganesh SK
  Title
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular  Dysplasia.
  Journal
Arterioscler Thromb Vasc Biol 40:2686-2699 (2020)
DOI:10.1161/ATVBAHA.119.313885
LinkDB

DBGET integrated database retrieval system