| Variant ID | 11371 |
|---|---|
| Entrez Gene ID | 5898 |
| Gene | RALA (GeneCards) |
| Location | hg19 7:39750442-39750442
hg38 7:39710843-39710843 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.39750442 G>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3285 |
| CADD Raw score (version 1.3) | -0.315911 (Deleterious) |
| FATHMM raw prediction score | 0.10225 (Tolerated) |
| Deleterious probability by DeFine | 0.1895 (Neutral) |
| Entrez Gene ID | 5898 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RALA (GeneCards) |
| Number of variants in RALA in this database | 1 (view all the variants) |
| Full name | RAS like proto-oncogene A |
| Band | 7p14.1 |
| Other IDs | Vega: OTTHUMG00000128775 OMIM: 179550 HGNC: HGNC:9839 Ensembl: ENSG00000006451 |
| Other names | RAL |
| Summary | The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq, Jul 2008] |
| 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; |