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 (#0001799)
Patient ID AN-18-1
Disease Aniridia
Reference/Submitter [25678763], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Father (AN-118-2) with same mutation has partial aniridia, nystagmus, foveal hypoplasia, cataract, glaucoma. Mutation absent from unaffected mother
# Reported 1
Population Southern India
Gender male
Sequence Inheritance Familial
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue -
Related Phenotype Aniridia, nystagmus, foveal hypoplasia, microcornea
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 04
Location Exon
Legacy DNA ID -
DNA change c.7_10dupAACA
RNA change -
Protein change p.(Ser4Lysfs*53)
RNA information Frame-shifting duplication leading to PTC. NMD likely
Protein information Protein synthesis unlikely
DB-ID PAX6_00761
Base number 7
5' Sequence Context AGAACA
Original Sequence -
Variant Sequence AACA
3' Sequence Context /GTAAGT
Type Duplication
Domain PD
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks Not found in 150 controls

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) 04 Exon - c.7_10dupAACA - p.(Ser4Lysfs*53) Frame-shifting duplication leading to PTC. NMD likely Protein synthesis unlikely PAX6_00761 7 AGAACA - AACA /GTAAGT Duplication PD Direct Sequencing - - Not found in 150 controls