| 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 (#0001840) |
| Patient ID |
Patient 4 |
| Disease |
- |
| Reference |
van der Wekken et al., 2017 |
| Template |
DNA |
| Technique |
WES |
| Remarks |
This variant is associated with afatinib-resistance in non-small cell lung carcinoma (NSCLC) patients that have been previously treated with geftinib or erlotinib, and subsequently with afatinib. The variant has a CADD score of 40, and is highly deleterious. |
| Ethnic origin |
- |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
No known pathogenicity |
| Concluded pathogenicity |
No known pathogenicity |
| Exon |
21 |
| DNA change |
c.3155C>A (View in UCSC Genome Browser, Ensembl) |
| dbSNP |
- |
| Type |
Substitution |
| Mutation Effect |
Nonsense |
| Protein |
p.Ser1052* |
| RNA change |
- |
| Re-site |
- |
| Frequency |
- |
| DB-ID |
ADAMTS2_00017 |
|
