| Variant ID | 23735 |
|---|---|
| Entrez Gene ID | 121793 |
| Gene | TEX29 (GeneCards) |
| Location | hg19 13:112329874-112329874
hg38 13:111677527-111677527 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000013.10:g.112329874 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0659 |
| CADD Raw score (version 1.3) | 0.226091 (Deleterious) |
| FATHMM raw prediction score | 0.14512 (Tolerated) |
| Deleterious probability by DeFine | 0.5661 (Deleterious) |
| Entrez Gene ID | 121793 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TEX29 (GeneCards) |
| Number of variants in TEX29 in this database | 9 (view all the variants) |
| Full name | testis expressed 29 |
| Band | 13q34 |
| Other IDs | Vega: OTTHUMG00000017358 HGNC: HGNC:20370 Ensembl: ENSG00000153495 |
| Other names | C13orf16, bA474D23.1 |
| Summary | None |
| 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; |