| Variant ID | 11653 |
|---|---|
| Entrez Gene ID | 64321 |
| Gene | SOX17 (GeneCards) |
| Location | hg19 8:55396712-55396712
hg38 8:54484152-54484152 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.55396712 A>G (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 | -0.3461 |
| CADD Raw score (version 1.3) | -0.125201 (Deleterious) |
| FATHMM raw prediction score | 0.07496 (Tolerated) |
| Deleterious probability by DeFine | 0.0803 (Neutral) |
| Entrez Gene ID | 64321 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SOX17 (GeneCards) |
| Number of variants in SOX17 in this database | 2 (view all the variants) |
| Full name | SRY-box 17 |
| Band | 8q11.23 |
| Other IDs | Vega: OTTHUMG00000164377 OMIM: 610928 HGNC: HGNC:18122 Ensembl: ENSG00000164736 |
| Other names | VUR3 |
| Summary | This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008] |
| 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; |