| Variant ID | 12936 |
|---|---|
| Entrez Gene ID | 158297 |
| Gene | SAXO1 (GeneCards) |
| Location | hg19 9:19013883-19013883
hg38 9:19013885-19013885 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.19013883 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2317 |
| CADD Raw score (version 1.3) | 0.051534 (Deleterious) |
| FATHMM raw prediction score | 0.07624 (Tolerated) |
| Deleterious probability by DeFine | 0.381 (Neutral) |
| Entrez Gene ID | 158297 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SAXO1 (GeneCards) |
| Number of variants in SAXO1 in this database | 3 (view all the variants) |
| Full name | stabilizer of axonemal microtubules 1 |
| Band | 9p22.1 |
| Other IDs | Vega: OTTHUMG00000019609 OMIM: 616292 HGNC: HGNC:28566 Ensembl: ENSG00000155875 |
| Other names | FAM154A, C9orf138 |
| Summary | None |
| 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; |