| Variant ID | 20129 |
|---|---|
| Entrez Gene ID | 6662 |
| Gene | SOX9 (GeneCards) |
| Location | hg19 17:70352484-70352484
hg38 17:72356343-72356343 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.70352484 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2331 |
| CADD Raw score (version 1.3) | -0.088793 (Deleterious) |
| FATHMM raw prediction score | 0.09954 (Tolerated) |
| Deleterious probability by DeFine | 0.508 (Deleterious) |
| Entrez Gene ID | 6662 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SOX9 (GeneCards) |
| Number of variants in SOX9 in this database | 4 (view all the variants) |
| Full name | SRY-box 9 |
| Band | 17q24.3 |
| Other IDs | Vega: OTTHUMG00000166300 OMIM: 608160 HGNC: HGNC:11204 Ensembl: ENSG00000125398 |
| Other names | CMD1, SRA1, CMPD1, SRXX2, SRXY10 |
| Summary | The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |