| Variant ID | 27647 |
|---|---|
| Entrez Gene ID | 144811 |
| Gene | LACC1 (GeneCards) |
| Location | hg19 13:44583368-44583368
hg38 13:44009232-44009232 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000013.10:g.44583368 G>C (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 | -0.0232 |
| CADD Raw score (version 1.3) | -0.220129 (Deleterious) |
| FATHMM raw prediction score | 0.17176 (Tolerated) |
| Deleterious probability by DeFine | 0.3765 (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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |