| Variant ID | 26701 |
|---|---|
| Entrez Gene ID | 64321 |
| Gene | SOX17 (GeneCards) |
| Location | hg19 8:55496889-55496889
hg38 8:54584329-54584329 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000008.10:g.55496889 C>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 | -0.2802 |
| CADD Raw score (version 1.3) | -0.098696 (Deleterious) |
| FATHMM raw prediction score | 0.14628 (Tolerated) |
| Deleterious probability by DeFine | 0.0752 (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 | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |