| Variant ID | 20206 |
|---|---|
| Entrez Gene ID | 11031 |
| Gene | RAB31 (GeneCards) |
| Location | hg19 18:9739413-9739413
hg38 18:9739416-9739416 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.9739413 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6576 |
| CADD Raw score (version 1.3) | -0.494684 (Deleterious) |
| FATHMM raw prediction score | 0.04997 (Tolerated) |
| Deleterious probability by DeFine | 0.0994 (Neutral) |
| Entrez Gene ID | 11031 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RAB31 (GeneCards) |
| Number of variants in RAB31 in this database | 2 (view all the variants) |
| Full name | RAB31, member RAS oncogene family |
| Band | 18p11.22 |
| Other IDs | Vega: OTTHUMG00000178513 OMIM: 605694 HGNC: HGNC:9771 Ensembl: ENSG00000168461 |
| Other names | Rab22B |
| Summary | Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009] |
| 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; |