| Variant ID | 23567 |
|---|---|
| Entrez Gene ID | 7007 |
| Gene | TECTA (GeneCards) |
| Location | hg19 11:121101738-121101738
hg38 11:121231029-121231029 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.121101738 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 |
|---|---|
| CADD Raw score (version 1.3) | -0.096205 (Deleterious) |
| FATHMM raw prediction score | 0.09196 (Tolerated) |
| Deleterious probability by DeFine | 0.0792 (Neutral) |
| Entrez Gene ID | 7007 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TECTA (GeneCards) |
| Number of variants in TECTA in this database | 5 (view all the variants) |
| Full name | tectorin alpha |
| Band | 11q23.3 |
| Other IDs | Vega: OTTHUMG00000149908 OMIM: 602574 HGNC: HGNC:11720 Ensembl: ENSG00000109927 |
| Other names | DFNA8, DFNA12, DFNB21 |
| Summary | The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |