| Variant ID | 17818 |
|---|---|
| Entrez Gene ID | 23263 |
| Gene | MCF2L (GeneCards) |
| Location | hg19 13:113668359-113668359
hg38 13:113014045-113014045 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.113668359 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1996 |
| CADD Raw score (version 1.3) | 0.184288 (Deleterious) |
| FATHMM raw prediction score | 0.1508 (Tolerated) |
| Deleterious probability by DeFine | 0.5537 (Deleterious) |
| Entrez Gene ID | 23263 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MCF2L (GeneCards) |
| Number of variants in MCF2L in this database | 1 (view all the variants) |
| Full name | MCF.2 cell line derived transforming sequence like |
| Band | 13q34 |
| Other IDs | Vega: OTTHUMG00000017377 OMIM: 609499 HGNC: HGNC:14576 Ensembl: ENSG00000126217 |
| Other names | DBS, OST, ARHGEF14 |
| Summary | This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] |
| Individual ID | 29217584.16 (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; |