| Variant ID | 5685 |
|---|---|
| Entrez Gene ID | 116135 |
| Gene | LRRC3B (GeneCards) |
| Location | hg19 3:27108388-27108388
hg38 3:27066897-27066897 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.27108388 A>G (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1551 |
| CADD Raw score (version 1.3) | 0.133274 (Deleterious) |
| FATHMM raw prediction score | 0.08759 (Tolerated) |
| Deleterious probability by DeFine | 0.4771 (Neutral) |
| Entrez Gene ID | 116135 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRRC3B (GeneCards) |
| Number of variants in LRRC3B in this database | 6 (view all the variants) |
| Full name | leucine rich repeat containing 3B |
| Band | 3p24.1 |
| Other IDs | Vega: OTTHUMG00000130572 HGNC: HGNC:28105 Ensembl: ENSG00000179796 |
| Other names | LRP15 |
| Summary | The protein encoded by this gene is a tumor suppressor, with lowered expression levels found in gastric, renal, colorectal, lung, and breast cancer tissues. The promoter of this gene is frequently hypermethylated in these cancer tissues, although the hypermethylation does not appear to be the cause of the reduced expression of this gene. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015] |
| Individual ID | 29217584.17 (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; |