COL1A1 |
- 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)