| Variant ID | 17815 |
|---|---|
| Entrez Gene ID | 144811 |
| Gene | LACC1 (GeneCards) |
| Location | hg19 13:44468440-44468440
hg38 13:43894304-43894304 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.44468440 T>A (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 | -0.2413 |
| CADD Raw score (version 1.3) | 0.21513 (Deleterious) |
| FATHMM raw prediction score | 0.11785 (Tolerated) |
| Deleterious probability by DeFine | 0.0982 (Neutral) |
| Entrez Gene ID | 144811 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LACC1 (GeneCards) |
| Number of variants in LACC1 in this database | 3 (view all the variants) |
| Full name | laccase domain containing 1 |
| Band | 13q14.11 |
| Other IDs | Vega: OTTHUMG00000016826 OMIM: 613409 HGNC: HGNC:26789 Ensembl: ENSG00000179630 |
| Other names | FAMIN, C13orf31 |
| Summary | This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet's disease, leprosy, ulcerative colitis, early-onset Crohn's disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017] |
| 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; |