| Variant ID | 7116 |
|---|---|
| Entrez Gene ID | 5910 |
| Gene | RAP1GDS1 (GeneCards) |
| Location | hg19 4:99182966-99182966
hg38 4:98261815-98261815 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.99182966 A>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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.9154 |
| CADD Raw score (version 1.3) | 1.056952 (Deleterious) |
| FATHMM raw prediction score | 0.84602 (Tolerated) |
| Deleterious probability by DeFine | 0.7456 (Deleterious) |
| Entrez Gene ID | 5910 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RAP1GDS1 (GeneCards) |
| Number of variants in RAP1GDS1 in this database | 2 (view all the variants) |
| Full name | Rap1 GTPase-GDP dissociation stimulator 1 |
| Band | 4q23 |
| Other IDs | Vega: OTTHUMG00000160987 OMIM: 179502 HGNC: HGNC:9859 Ensembl: ENSG00000138698 |
| Other names | GDS1, SmgGDS |
| Summary | The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010] |
| Individual ID | 29217584.16 (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; |