COL1A1 (Entrez ID: 1277)

Entrez Gene ID	1277
Official Gene Symbol	COL1A1 (GeneCards)
Full name	collagen type I alpha 1 chain
Location	17q21.33
Other ids	Vega : OTTHUMG00000148674 MIM : 120150 HGNC : HGNC:2197 Ensembl : ENSG00000108821
Other names	OI1, OI2, OI3, OI4, EDSC, EDSARTH1
Summary	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Variants

Found 15 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
65	1277	COL1A1	17	48262949	48262949	Osteogenesis imperfecta type3	Sanger
96	1277	COL1A1	17	48273282	48273286	Osteogenesis imperfecta type2	Sanger Subcloning
97	1277	COL1A1	17	48273282	48273286	Osteogenesis imperfecta type2	Sanger Subcloning
98	1277	COL1A1	17	48273282	48273286	Osteogenesis imperfecta type2	Sanger Subcloning
255	1277	COL1A1	17	48263148	48263148	Osteogenesis imperfecta type2	Sanger Subcloning NA
256	1277	COL1A1	17	48265940	48265948	Osteogenesis imperfecta type2	Sanger Subcloning NA
257	1277	COL1A1	17	48268787	48268787	Osteogenesis imperfecta type2	Sanger Subcloning NA
589	1277	COL1A1	17	48271508	48271508	Osteogenesis imperfecta type2	Sanger Subcloning NA Allele Specific Oligohibridization
590	1277	COL1A1	17	48271508	48271508	Osteogenesis imperfecta type2	Sanger Subcloning NA Allele Specific Oligohibridization
591	1277	COL1A1	17	48267056	48267056	Osteogenesis imperfecta type2	Sanger Subcloning NA Allele Specific Oligohibridization
592	1277	COL1A1	17	48267056	48267056	Osteogenesis imperfecta type2	Sanger Subcloning NA Allele Specific Oligohibridization RFLP
593	1277	COL1A1	17	48267056	48267056	Osteogenesis imperfecta type2	Sanger Subcloning NA Allele Specific Oligohibridization RFLP
594	1277	COL1A1	17	48267056	48267056	Osteogenesis imperfecta type2	Sanger Subcloning NA Allele Specific Oligohibridization RFLP
19930	1277	COL1A1	17	48276046	48276046	Asymptomatic	Sanger Subcloning NA Allele Specific Oligohibridization RFLP HiSeq X Ten
34684	1277	COL1A1	17	48265940	48265948	OI/EDS Combined Syndrome	Sanger Subcloning NA Allele Specific Oligohibridization RFLP HiSeq X Ten Sanger Sequencing Target NGS Sequencing