This database has been closed to new submissions.
The date of last curation was 07 June 2017 and the 'last update' on 04
August 2018 was a partial and uncurated update.
| 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 (#0000415) |
| Patient ID |
PY2K/015 AMBRI |
| Disease |
Aniridia, Glaucoma |
| Reference/Submitter |
[16712695], United Kingdom (Great Britain):Edinburgh |
| Template |
DNA |
| Technique |
DHPLC |
| Remarks |
Alternate patient ID is MEP3-10 |
| # Reported |
1 |
| Population |
- |
| Gender |
Female |
| Sequence Inheritance |
- |
| Phenotype Inheritance |
Familial |
| Second PCR |
Yes |
| CIS |
- |
| Conserved residue |
Yes |
| Related Phenotype |
Glaucoma secondary to bilateral aniridia. Probable familial case - deceased father had nystagmus and unilateral retinal detachment |
| Unrelated Phenotype |
- |
| Submitter |
Isabel Hanson |
| Variant data |
| Allele |
Paternal (inferred) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
05 |
| Location |
Exon |
| Legacy DNA ID |
c.468G>T |
| DNA change |
c.106G>T (View in UCSC Genome Browser) |
| RNA change |
- |
| Protein change |
p.(Gly36Trp) |
| RNA information |
Gly (ggg) > Trp (ugg) predicted |
| Protein information |
Predicted substitution of invariant glycine in paired domain |
| DB-ID |
PAX6_00415 |
| Base number |
106 |
| 5' Sequence Context |
CACAGC |
| Original Sequence |
G |
| Variant Sequence |
T |
| 3' Sequence Context |
GGGCCC |
| Type |
Substitution |
| Domain |
PD |
| Detection Method |
DHPLC |
| RE Site |
- |
| Frequency |
- |
| Remarks |
- |
|
|
