| Variant ID | 958 |
|---|---|
| Entrez Gene ID | 7216 |
| Gene | TRO (GeneCards) |
| Location | hg19 X:54949175-54949175
hg38 X:54922742-54922742 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.54949175 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 70 |
| Amino acid changes in protein | K > K |
| 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) | 1.160303 (Deleterious) |
| FATHMM raw prediction score | 0.92696 (Tolerated) |
| Deleterious probability by DeFine | 0.6787 (Deleterious) |
| Entrez Gene ID | 7216 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRO (GeneCards) |
| Number of variants in TRO in this database | 1 (view all the variants) |
| Full name | trophinin |
| Band | Xp11.21 |
| Other IDs | Vega: OTTHUMG00000021640 OMIM: 300132 HGNC: HGNC:12326 Ensembl: ENSG00000067445 |
| Other names | MAGED3, MAGE-d3 |
| Summary | This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |