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 (#0000364) |
| Patient ID |
PY2K/457 2/1B |
| Disease |
Cataract, Iris anomaly |
| Reference/Submitter |
Hingorani 2009 2/1B [19218613], United Kingdom (Great Britain):Edinburgh |
| Template |
DNA |
| Technique |
DHPLC |
| Remarks |
Patient 2/1B in Hingorani 2009; mother is patient 2/1A |
| # Reported |
1 |
| Population |
- |
| Gender |
Female |
| Sequence Inheritance |
Familial |
| Phenotype Inheritance |
Familial |
| Second PCR |
Yes |
| CIS |
No |
| Conserved residue |
Yes |
| Related Phenotype |
Iris anomaly and early cataracts. Same mutation in similarly affected mother |
| Unrelated Phenotype |
- |
| Submitter |
Kathy Williamson |
| Variant data |
| Allele |
Maternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
05 |
| Location |
Exon |
| Legacy DNA ID |
c.468G>A |
| DNA change |
c.106G>A |
| RNA change |
- |
| Protein change |
p.(Gly36Arg) |
| RNA information |
Gly (ggg) > Arg (agg) predicted |
| Protein information |
Missense substitution of invariant glycine predicted |
| DB-ID |
PAX6_00364 |
| Base number |
106 |
| 5' Sequence Context |
CACAGC |
| Original Sequence |
G |
| Variant Sequence |
A |
| 3' Sequence Context |
GGGCCC |
| Type |
Substitution |
| Domain |
PD |
| Detection Method |
DHPLC |
| RE Site |
- |
| Frequency |
- |
| Remarks |
- |
|
|
