| Variant ID | 10109 |
|---|---|
| Entrez Gene ID | 3908 |
| Gene | LAMA2 (GeneCards) |
| Location | hg19 6:129880799-129880799
hg38 6:129559654-129559654 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.129880799 A>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.346 |
| CADD Raw score (version 1.3) | -0.111831 (Deleterious) |
| FATHMM raw prediction score | 0.07246 (Tolerated) |
| Deleterious probability by DeFine | 0.0559 (Neutral) |
| Entrez Gene ID | 3908 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LAMA2 (GeneCards) |
| Number of variants in LAMA2 in this database | 11 (view all the variants) |
| Full name | laminin subunit alpha 2 |
| Band | 6q22.33 |
| Other IDs | Vega: OTTHUMG00000015545 OMIM: 156225 HGNC: HGNC:6482 Ensembl: ENSG00000196569 |
| Other names | LAMM |
| Summary | Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |