• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COL1A1 (HGNC:2197) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
collagen type I alpha 1 chain
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
OI4
%HI
7.09(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.11(Read more about gnomAD LOEUF score)
Cytoband
17q21.33
Genomic Coordinates
GRCh37/hg19: chr17:48261462-48278992 NCBI Ensembl UCSC
GRCh38/hg38: chr17:50184101-50201631 NCBI Ensembl UCSC
MANE Select Transcript
NM_000088.4 ENST00000225964.10 (Read more about MANE Select)
Function
Type I collagen is a member of group I collagen (fibrillar forming collagen). (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13615
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/23/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • osteogenesis imperfecta type 1 Monarch
HI Evidence:
  • PUBMED: 9067755
    Korkko et al. (1997) analyzed COL1A1 in 8 patients with OI type I and found several mutations, including a ARG963TER mutation in 2 unrelated affected individuals and a 1 bp deletion resulting in a premature stop codon.
  • PUBMED: 9016532
    Dalgleish (1997) describes a mutation database for COL1A1 and COL1A2, including 6 frameshift mutations in COL1A1 and 7 deletions in COL1A1.
HI Evidence Comments:
Mutations are associated with Osteogenesis imperfecta I-IV. There is a wide phenotypic spectrum.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
PMID: 19449402 Zahir et al. (2009) report a de novo 1.1 Mb duplication involving multiple genes including COL1A1 in a patient with mild cognitive impairment, deafness, microcephaly, scoliosis and other skeletal defects. The authors propose 2 candidate genes in the association of the patient's phenotype, including COL1A1 for the skeletal issues.

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)