| Variant ID | 333 |
|---|---|
| Entrez Gene ID | 1301 |
| Gene | COL11A1 (GeneCards) |
| Location | hg19 1:103467983-103467983
hg38 1:103002427-103002427 |
| Disease | Marshall syndrome (view all the variants in this disease) |
| Method | ABI3730 |
| Mutation(HGVS format) | NC_000001.10:g.103467983 C>T (Genome Assembly: hg19) |
| Exon or Intron | Intron |
|---|---|
| Exon number | 50 |
| Exon nc | 1 |
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | 2133 |
| Changes in cDNA | G > A |
| mRNA accession | NM_080629.2 |
| mRNA length | 5457 |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2234 |
| CADD Raw score (version 1.3) | 6.232066 (Deleterious) |
| FATHMM raw prediction score | 0.99586 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.078 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.87 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.343 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.583 |
| Deleterious probability by DeFine | 0.9204 (Deleterious) |
| 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 | 19449424.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 19449424 |
| Whose mosaic mutation | Mother |
| Phenotype | 2 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Marshall syndrome (view all the variants in this disease) |
| OMIM ID | 154780 |
| Pubmed ID | 19449424 |
|---|---|
| Title | Mosaicism in Marshall Syndrome |
| Journal | American Journal of Medical Genetics |
| Publication date | 2009.06 |
| Disease | Marshall syndrome |
| Number of cases | Female cases: 1; |