| Variant ID | 34638 |
|---|---|
| Entrez Gene ID | 1278 |
| Gene | COL1A2 (GeneCards) |
| Location | hg19 7:94045815-94045815
hg38 7:94416503-94416503 |
| Disease | Osteogenesis imperfecta (view all the variants in this disease) |
| Method | Sanger Sequencing Ion Torrent Ampliseq |
| Mutation(HGVS format) | NC_000007.13:g.94045815 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 621 |
| Amino acid changes in protein | K > K |
| Position in cDNA | 1863 |
| Changes in cDNA | G > A |
| mRNA accession | NM_000089.3 |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.8948 |
| CADD Raw score (version 1.3) | 2.624586 (Deleterious) |
| FATHMM raw prediction score | 0.9761 (Tolerated) |
| Deleterious probability by DeFine | 0.9657 (Deleterious) |
| Entrez Gene ID | 1278 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL1A2 (GeneCards) |
| Number of variants in COL1A2 in this database | 6 (view all the variants) |
| Full name | collagen type I alpha 2 chain |
| Band | 7q21.3 |
| Other IDs | Vega: OTTHUMG00000148675 OMIM: 120160 HGNC: HGNC:2198 Ensembl: ENSG00000164692 |
| Other names | OI4, EDSCV, EDSARTH2 |
| Summary | This gene encodes the pro-alpha2 chain 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 VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] |
| Individual ID | 27761249.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27761249 |
| Whose mosaic mutation | Father |
| Phenotype | 1 |
| Number of affected children | 2 |
| Disease | Osteogenesis imperfecta (view all the variants in this disease) |
| OMIM ID | 166210 |
| Pubmed ID | 27761249 |
|---|---|
| Title | Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2 |
| Journal | Clinical Case Reports |
| Publication date | 2016.07 |
| Disease | Osteogenesis Imperfecta |
| Number of cases | Male cases: 1; |