| 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 (#0002338) |
| Disease |
MRX |
| Phenotype additional |
- |
| Remarks |
- |
| Reference |
Raymond:Cambridge |
| Geographic origin |
? |
| Ethnic origin |
? |
| Inheritance |
unknown |
| Consang. |
- |
| Age_exam |
- |
| Age_onset |
- |
| MR |
- |
| # Reported |
1 |
| Submitter |
Lucy Raymond |
| Variant data |
| Allele |
Parent #1 |
| Reported pathogenicity |
Unknown |
| Concluded pathogenicity |
Unknown |
| Reference |
Tarpey 2009 |
| Template |
DNA |
| do not use |
SEQ |
| Exon |
- |
| DNA change |
c.4206A>G (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
p.V1402V |
| RNA change |
r.(?) |
| Protein |
p.=? |
| Re-site |
- |
| Frequency |
- |
| DB-ID |
NRK_00007 |
| Variant remarks |
found once, nonrecurrent change |
| Genetic origin |
- |
|
|
