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.

LOVD - Variant listings for PAX6

About this overview [Show]

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 -

1 entry in PAX6

Path. Allele
Exon Descending
Ascending
Location Descending
Ascending
Legacy DNA ID Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
RNA information Descending
Ascending
Protein information Descending
Ascending
DB-ID Descending
Ascending
Base number Descending
Ascending
5' Sequence Context Descending
Ascending
Original Sequence Descending
Ascending
Variant Sequence Descending
Ascending
3' Sequence Context Descending
Ascending
Type Descending
Ascending
Domain Descending
Ascending
Detection Method Descending
Ascending
RE Site Descending
Ascending
Frequency Descending
Ascending
Remarks Descending
Ascending
+/+ Paternal (inferred) 05 Exon - c.83_85delAGA - p.(Lys28del) In-frame deletion of one codon predicted Deletion of lysine from first helix of PD PAX6_00663 83 GGCAGA AGA - TTGTAG Deletion PD Direct Sequencing - - -