| Variant ID | 11669 |
|---|---|
| Entrez Gene ID | 80223 |
| Gene | RAB11FIP1 (GeneCards) |
| Location | hg19 8:37745396-37745396
hg38 8:37887878-37887878 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.37745396 T>C (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2143 |
| CADD Raw score (version 1.3) | 0.034557 (Deleterious) |
| FATHMM raw prediction score | 0.16008 (Tolerated) |
| Deleterious probability by DeFine | 0.3722 (Neutral) |
| Entrez Gene ID | 80223 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RAB11FIP1 (GeneCards) |
| Number of variants in RAB11FIP1 in this database | 1 (view all the variants) |
| Full name | RAB11 family interacting protein 1 |
| Band | 8p11.23 |
| Other IDs | Vega: OTTHUMG00000164026 OMIM: 608737 HGNC: HGNC:30265 Ensembl: ENSG00000156675 |
| Other names | RCP, NOEL1A, rab11-FIP1 |
| Summary | This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013] |
| Individual ID | 29217584.03 (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; |