| Variant ID | 11655 |
|---|---|
| Entrez Gene ID | 64089 |
| Gene | SNX16 (GeneCards) |
| Location | hg19 8:83286680-83286680
hg38 8:82374445-82374445 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.83286680 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3195 |
| CADD Raw score (version 1.3) | 0.062039 (Deleterious) |
| FATHMM raw prediction score | 0.04254 (Tolerated) |
| Deleterious probability by DeFine | 0.1459 (Neutral) |
| Entrez Gene ID | 64089 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SNX16 (GeneCards) |
| Number of variants in SNX16 in this database | 38 (view all the variants) |
| Full name | sorting nexin 16 |
| Band | 8q21.13 |
| Other IDs | Vega: OTTHUMG00000164727 OMIM: 614903 HGNC: HGNC:14980 Ensembl: ENSG00000104497 |
| Other names | None |
| Summary | This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The protein encoded by this gene associates with late endosome membranes as is involved in tubule formation, cholesterol transport, and transport of tetraspanin CD81. The encoded protein also inhibits cell migration and tumorigenesis. [provided by RefSeq, Jan 2017] |
| 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; |