| Variant ID | 17042 |
|---|---|
| Entrez Gene ID | 11228 |
| Gene | RASSF8 (GeneCards) |
| Location | hg19 12:26216340-26216340
hg38 12:26063407-26063407 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.26216340 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1978 |
| CADD Raw score (version 1.3) | 0.127452 (Deleterious) |
| FATHMM raw prediction score | 0.13175 (Tolerated) |
| Deleterious probability by DeFine | 0.1446 (Neutral) |
| Entrez Gene ID | 11228 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RASSF8 (GeneCards) |
| Number of variants in RASSF8 in this database | 3 (view all the variants) |
| Full name | Ras association domain family member 8 |
| Band | 12p12.1 |
| Other IDs | Vega: OTTHUMG00000169087 OMIM: 608231 HGNC: HGNC:13232 Ensembl: ENSG00000123094 |
| Other names | HOJ1, C12orf2 |
| Summary | This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |