| Variant ID | 485 |
|---|---|
| Entrez Gene ID | 6662 |
| Gene | SOX9 (GeneCards) |
| Location | hg19 17:70120318-70120318
hg38 17:72124177-72124177 |
| Disease | Campomelic dysplasia (view all the variants in this disease) |
| Method | PSQ96 |
| Mutation(HGVS format) | NC_000017.10:g.70120318 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 3 |
| Position in protein | 440 |
| Amino acid changes in protein | Y > Z |
| Position in cDNA | 1320 |
| Changes in cDNA | C > A |
| mRNA accession | NM_000346.3 |
| mRNA length | 1530 |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.0007 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs80338688 |
| EIGEN score | 1.6556 |
| CADD Raw score (version 1.3) | 1.295625 (Deleterious) |
| FATHMM raw prediction score | 0.90531 (Tolerated) |
| Deleterious probability by DeFine | 0.8911 (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 | 15806394.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 15806394 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Campomelic dysplasia (view all the variants in this disease) |
| OMIM ID | 114290 |
| Pubmed ID | 15806394 |
|---|---|
| Title | A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion |
| Journal | Human Genetics |
| Publication date | 2005.06 |
| Disease | Campomelic dysplasia |
| Number of cases | Female cases: 1; |