| Variant ID | 7223 |
|---|---|
| Entrez Gene ID | 22915 |
| Gene | MMRN1 (GeneCards) |
| Location | hg19 4:91034261-91034261
hg38 4:90113110-90113110 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.91034261 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2484 |
| CADD Raw score (version 1.3) | 0.188522 (Deleterious) |
| FATHMM raw prediction score | 0.09957 (Tolerated) |
| Deleterious probability by DeFine | 0.1199 (Neutral) |
| Entrez Gene ID | 22915 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MMRN1 (GeneCards) |
| Number of variants in MMRN1 in this database | 3 (view all the variants) |
| Full name | multimerin 1 |
| Band | 4q22.1 |
| Other IDs | Vega: OTTHUMG00000130947 OMIM: 601456 HGNC: HGNC:7178 Ensembl: ENSG00000138722 |
| Other names | ECM, MMRN, GPIa*, EMILIN4 |
| Summary | Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008] |
| 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; |