COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Disease: Congenital Abnormality ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1234344050
rs1234344050
Entrez Id: 1281;105373791
Gene Symbol: COL3A1;LOC105373791
COL3A1;LOC105373791
CUI: C0000768
Disease:
Congenital Abnormality 		0.010 GeneticVariation BEFREE In the second family, the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures. 28742248 2017