| Variant ID | 16955 |
|---|---|
| Entrez Gene ID | 51474 |
| Gene | LIMA1 (GeneCards) |
| Location | hg19 12:50683985-50683985
hg38 12:50290202-50290202 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.50683985 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1869 |
| CADD Raw score (version 1.3) | 0.299207 (Deleterious) |
| FATHMM raw prediction score | 0.11032 (Tolerated) |
| Deleterious probability by DeFine | 0.0687 (Neutral) |
| Entrez Gene ID | 51474 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LIMA1 (GeneCards) |
| Number of variants in LIMA1 in this database | 1 (view all the variants) |
| Full name | LIM domain and actin binding 1 |
| Band | 12q13.12 |
| Other IDs | Vega: OTTHUMG00000169852 OMIM: 608364 HGNC: HGNC:24636 Ensembl: ENSG00000050405 |
| Other names | EPLIN, SREBP3 |
| Summary | This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011] |
| 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; |