| Variant ID | 29494 |
|---|---|
| Entrez Gene ID | 3908 |
| Gene | LAMA2 (GeneCards) |
| Location | hg19 6:129468180-129468180
hg38 6:129147035-129147035 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.129468180 A>C (Genome Assembly: hg19) |
| 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 | 0.7788 |
| CADD Raw score (version 1.3) | 5.963794 (Deleterious) |
| FATHMM raw prediction score | 0.99828 (Tolerated) |
| SIFT score | 0.008 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.855 (Tolerated) |
| PROVEAN score | -6.24 (Deleterious) |
| MetaSVM score | -0.345 (Tolerated) |
| MetaLR score | 0.314 (Tolerated) |
| MCAP score | 0.079 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.61 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.809 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.101 |
| Deleterious probability by iFish2 | 0.7211 (Deleterious) |
| Deleterious probability by DeFine | 0.9438 (Deleterious) |
| 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 | 28714951.170 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |