| Variant ID | 65 |
|---|---|
| Entrez Gene ID | 1277 |
| Gene | COL1A1 (GeneCards) |
| Location | hg19 17:48262949-48262949
hg38 17:50185588-50185588 |
| Disease | Osteogenesis imperfecta type3 (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000017.10:g.48262949_48262949 ins T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 52 |
| Position in protein | 1437 |
| Amino acid changes in protein | L > T |
| Frameshift | fsX114 |
| Position in cDNA | 4308 |
| Changes in cDNA | NA > NA |
| Indel | insA |
| mRNA accession | NM_000088.3 |
| mRNA length | 4395 |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.9574 (Deleterious) |
| Entrez Gene ID | 1277 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL1A1 (GeneCards) |
| Number of variants in COL1A1 in this database | 15 (view all the variants) |
| Full name | collagen type I alpha 1 chain |
| Band | 17q21.33 |
| Other IDs | Vega: OTTHUMG00000148674 OMIM: 120150 HGNC: HGNC:2197 Ensembl: ENSG00000108821 |
| Other names | OI1, OI2, OI3, OI4, EDSC, EDSARTH1 |
| Summary | This gene encodes the pro-alpha1 chains 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 VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] |
| Individual ID | 23548228.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 23548228 |
| Whose mosaic mutation | Father |
| Phenotype | 1 |
| Number of affected children | 1 ( female: 1; ) |
| Disease | Osteogenesis imperfecta type3 (view all the variants in this disease) |
| OMIM ID | 259420 |
| Pubmed ID | 23548228 |
|---|---|
| Title | Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism |
| Journal | Taiwanese Journal of Obstetrics and Gynecology |
| Publication date | 2013.03 |
| Disease | Osteogenesis imperfecta type3 |
| Incidence | 1/60000 |
| Number of cases | Male cases: 1; |