| Variant ID | 15833 |
|---|---|
| Entrez Gene ID | 644943 |
| Gene | RASSF10 (GeneCards) |
| Location | hg19 11:13140752-13140752
hg38 11:13119205-13119205 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.13140752 G>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009696 |
|---|---|
| EIGEN score | -0.0184 |
| CADD Raw score (version 1.3) | -0.09873 (Deleterious) |
| FATHMM raw prediction score | 0.18638 (Tolerated) |
| Deleterious probability by DeFine | 0.7021 (Deleterious) |
| Entrez Gene ID | 644943 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RASSF10 (GeneCards) |
| Number of variants in RASSF10 in this database | 7 (view all the variants) |
| Full name | Ras association domain family member 10 |
| Band | 11p15.3 |
| Other IDs | Vega: OTTHUMG00000166184 OMIM: 614713 HGNC: HGNC:33984 Ensembl: ENSG00000189431 |
| Other names | None |
| Summary | None |
| Individual ID | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |