| 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 (#0002026) |
| Disease |
mental retardation, X-linked |
| Reference |
Tarpey 2009, United Kingdom (Great Britain):Cambridge |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
| # Reported |
39 |
| Ethnic origin |
- |
| Disease Mesh ID |
- |
| Geographic origin |
- |
| Submitter |
Lucy Raymond |
| Variant data |
| Allele |
Parent #1 |
| Reported pathogenicity |
No known pathogenicity |
| Concluded pathogenicity |
Unknown |
| Exon |
- |
| DNA change |
c.2173C>G (View in UCSC Genome Browser, Ensembl) |
| DNA published |
Q725E |
| RNA change |
r.(?) |
| Protein |
p.? |
| Re-site |
- |
| Frequency |
39/208 |
| Origin |
familial, X-linked |
| DB-ID |
ATRX_00124 |
| Variant remarks |
recurrent, found 39 times; variant and/or predicted effect could not be not confirmed by curators |
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