The COL1A1 gene homepage


Osteogenesis Imperfecta Variant Database

General information
Gene symbol COL1A1
Gene name collagen type I alpha 1 chain
Chromosome 17
Chromosomal band q21.33
Imprinted Unknown
Genomic reference LRG_1
Transcript reference NM_000088.3
Exon/intron information NM_000088.3 exon/intron table
Associated with diseases EDS, EDS-7A, EDS-7B, OI, OI1, OI2, OI3, OI4, cortical hyperostosis, cortical, infantile, osteoporosis
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Raymond Dalgleish, Wei Kheng Teh, Gerard Pals, and Sonna Stolk
Total number of public variants reported 2721
Unique public DNA variants reported 1321
Individuals with public variants 2539
Hidden variants 300
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
This database is supported by , Osteogenesis Imperfecta Federation Europe (OIFE)
Date created February 19, 2008
Date last updated September 17, 2021
Version COL1A1:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000088.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/COL1A1
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 2197
Entrez Gene 1277
PubMed articles COL1A1
OMIM - Gene 120150
OMIM - Diseases EDS-7A (Ehlers-Danlos syndrome, type VIIA (EDS-7A))
EDS-7B (Ehlers-Danlos syndrome, type VIIB (EDS-7B))
OI1 (osteogenesis imperfecta, type I (OI1))
OI2 (osteogenesis imperfecta, type II (OI2))
OI3 (osteogenesis imperfecta, type III (OI3))
OI4 (osteogenesis imperfecta, type IV (OI4))
cortical hyperostosis, cortical, infantile
osteoporosis
HGMD COL1A1
GeneCards COL1A1
GeneTests COL1A1
Orphanet COL1A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005455 17 collagen, type I, alpha 1 NM_000088.3 NP_000079.2 2721


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