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 (#0001600) |
| Patient ID |
71158 |
| Disease |
Microcornea |
| Reference/Submitter |
Wang 2012 [22893676], United Kingdom (Great Britain):Edinburgh |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
Affected father not tested |
| # Reported |
1 |
| Population |
35 Chinese microcornea cases |
| Gender |
female |
| Sequence Inheritance |
- |
| Phenotype Inheritance |
Familial |
| Second PCR |
- |
| CIS |
- |
| Conserved residue |
- |
| Related Phenotype |
Bilateral microcornea (8 mm), ptosis, partial iris hypoplasia, mild optic nerve hypoplasia, foveal hypoplasia |
| Unrelated Phenotype |
- |
| Submitter |
Isabel Hanson |
| Variant data |
| Allele |
Paternal (inferred) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
05 |
| Location |
Exon |
| Legacy DNA ID |
- |
| DNA change |
c.83_85delAGA (View in UCSC Genome Browser) |
| RNA change |
- |
| Protein change |
p.(Lys28del) |
| RNA information |
In-frame deletion of one codon predicted |
| Protein information |
Deletion of lysine from first helix of PD |
| DB-ID |
PAX6_00663 |
| Base number |
83 |
| 5' Sequence Context |
GGCAGA |
| Original Sequence |
AGA |
| Variant Sequence |
- |
| 3' Sequence Context |
TTGTAG |
| Type |
Deletion |
| Domain |
PD |
| Detection Method |
Direct Sequencing |
| RE Site |
- |
| Frequency |
- |
| Remarks |
- |
|
|
