COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Bone Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514672
rs397514672
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0005940
Disease:
Bone Diseases 		0.010 GeneticVariation BEFREE Here, we report an infant with severe OI born following a twin pregnancy in whom the bone disease is caused by a heterozygous pathogenic mutation, c.4160C >T, p.(Ala1387Val) located in the C-propeptide region of COL1A1. 27549894 2016
dbSNP: rs72656351
rs72656351
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0005940
Disease:
Bone Diseases 		0.010 GeneticVariation BEFREE A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases. 11826020 2002