| Variant ID | 28792 |
|---|---|
| Entrez Gene ID | 50945 |
| Gene | TBX22 (GeneCards) |
| Location | hg19 X:79349344-79349344
hg38 X:80093845-80093845 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000023.10:g.79349344 T>C (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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.240451 (Deleterious) |
| FATHMM raw prediction score | 0.0882 (Tolerated) |
| Deleterious probability by DeFine | 0.2151 (Neutral) |
| Entrez Gene ID | 50945 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TBX22 (GeneCards) |
| Number of variants in TBX22 in this database | 4 (view all the variants) |
| Full name | T-box 22 |
| Band | Xq21.1 |
| Other IDs | Vega: OTTHUMG00000021901 OMIM: 300307 HGNC: HGNC:11600 Ensembl: ENSG00000122145 |
| Other names | CPX, CLPA, TBXX, ABERS, dJ795G23.1 |
| Summary | This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |