• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COL1A2 (HGNC:2198) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
collagen type I alpha 2 chain
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
OI4
Alias symbols
No aliases found
%HI
4.09(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.2(Read more about gnomAD LOEUF score)
Cytoband
7q21.3
Genomic Coordinates
GRCh37/hg19: chr7:94024207-94060539 NCBI Ensembl UCSC
GRCh38/hg38: chr7:94394895-94431227 NCBI Ensembl UCSC
MANE Select Transcript
NM_000089.4 ENST00000297268.11 (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-22424
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/12/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Heterozygous COL1A2 mutations are associated with osteogenesis imperfecta types II-IV (MIM# 166210, 259420, 166220) and Ehlers-Danlos syndrome, type VIIB (MIM #130060). The vast majority of reported COL1A2 mutations, including intragenic copy number changes, result in a structurally abnormal protein product and pathogenesis by a dominant-negative, rather than a dosage sensitivity-type, mechanism (see PMID 17078022 and OMIM for reviews). Any identified copy number changes within this gene will need specific scrutiny to determine potential pathogenesis. Homozygous and compound heterozygous null COL1A2 mutations are associated with the autosomal recessive condition, Ehlers-Danlos syndrome, cardiac valvular form (MIM #225320). When reported, carrier parents had no evidence of valvular heart disease.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)