| Variant ID | 2713 |
|---|---|
| Entrez Gene ID | 1301 |
| Gene | COL11A1 (GeneCards) |
| Location | hg19 1:103717721-103717721
hg38 1:103252165-103252165 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.103717721 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1173 |
| CADD Raw score (version 1.3) | 0.774925 (Deleterious) |
| FATHMM raw prediction score | 0.24586 (Tolerated) |
| Deleterious probability by DeFine | 0.0848 (Neutral) |
| Entrez Gene ID | 1301 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL11A1 (GeneCards) |
| Number of variants in COL11A1 in this database | 7 (view all the variants) |
| Full name | collagen type XI alpha 1 chain |
| Band | 1p21.1 |
| Other IDs | Vega: OTTHUMG00000010872 OMIM: 120280 HGNC: HGNC:2186 Ensembl: ENSG00000060718 |
| Other names | STL2, COLL6, CO11A1 |
| Summary | This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |