| Variant ID | 9557 |
|---|---|
| Entrez Gene ID | 85021 |
| Gene | REPS1 (GeneCards) |
| Location | hg19 6:139286891-139286891
hg38 6:138965754-138965754 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.139286891 C>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1991 |
| CADD Raw score (version 1.3) | 0.143723 (Deleterious) |
| FATHMM raw prediction score | 0.19398 (Tolerated) |
| Deleterious probability by DeFine | 0.6006 (Deleterious) |
| Entrez Gene ID | 85021 (NCBI Gene) |
|---|---|
| Official Gene Symbol | REPS1 (GeneCards) |
| Number of variants in REPS1 in this database | 3 (view all the variants) |
| Full name | RALBP1 associated Eps domain containing 1 |
| Band | 6q24.1 |
| Other IDs | Vega: OTTHUMG00000015685 OMIM: 614825 HGNC: HGNC:15578 Ensembl: ENSG00000135597 |
| Other names | NBIA7, RALBP1 |
| Summary | This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217584.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |