| Variant ID | 27362 |
|---|---|
| Entrez Gene ID | 55553 |
| Gene | SOX6 (GeneCards) |
| Location | hg19 11:16749965-16749965
hg38 11:16728418-16728418 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.16749965 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6613 |
| CADD Raw score (version 1.3) | -0.30955 (Deleterious) |
| FATHMM raw prediction score | 0.05318 (Tolerated) |
| Deleterious probability by DeFine | 0.1635 (Neutral) |
| Entrez Gene ID | 55553 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SOX6 (GeneCards) |
| Number of variants in SOX6 in this database | 5 (view all the variants) |
| Full name | SRY-box 6 |
| Band | 11p15.2 |
| Other IDs | Vega: OTTHUMG00000165876 OMIM: 607257 HGNC: HGNC:16421 Ensembl: ENSG00000110693 |
| Other names | SOXD, HSSOX6 |
| Summary | This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |