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 (#0000398)
Patient ID ANF8-1
Disease Aniridia, Cataract, Foveal Hypoplasia, Nystagmus
Reference/Submitter [16803629], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SSCP
Remarks -
# Reported 1
Population -
Gender Male
Sequence Inheritance Familial
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue n/a
Related Phenotype Bilateral keratopathy. Affected relatives have same mutation
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.389_393dupTCAGC
DNA change c.27_31dupTCAGC   (View in UCSC Genome Browser)
RNA change -
Protein change p.(Gly12Serfs*21)
RNA information PTC predicted - NMD likely
Protein information Protein synthesis unlikely
DB-ID PAX6_00398
Base number 27
5' Sequence Context ATCAGC
Original Sequence -
Variant Sequence TCAGC
3' Sequence Context TCGGTG
Type Duplication
Domain PD
Detection Method SSCP
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 (confirmed) 05 Exon c.389_393dupTCAGC c.27_31dupTCAGC - p.(Gly12Serfs*21) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00398 27 ATCAGC - TCAGC TCGGTG Duplication PD SSCP - - -