| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| Patient data (#0000134) |
| Patient ID |
22 |
| Disease |
Breast cancer |
| Reference |
Shin et al., 2001 |
| Template |
DNA |
| Technique |
PCR, SSCA |
| Frequency |
- |
| Remarks |
This variant was found in both the primary and metastatic breast cancer samples. Transfection of this mutation into 293 other cells showed significant defects in apoptotic function. |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Unknown |
| Concluded pathogenicity |
Unknown |
| External ID |
- |
| Exon |
9 |
| DNA change |
c.1117A>G (View in UCSC Genome Browser, Ensembl) |
| Type |
Substitution |
| Mutation effect |
Missense |
| Protein |
p.(Asn373Asp) |
| PolyPhen 2 |
Not determined |
| Frequency |
- |
| DB-ID |
TNFRSF10A_00057 |
|
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