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 (#0000946)
Patient ID Patient 53
Disease Aniridia
Reference/Submitter [18483559], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population -
Gender -
Sequence Inheritance -
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue -
Related Phenotype Isolated aniridia
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 03
Location Intron
Legacy DNA ID IVS3+1G>A
DNA change c.-52+1G>A
RNA change r.-128_142-95del
Protein change p.?
RNA information Exon skipping predicted by analogy with PAX6_00143
Protein information Effect on protein unknown
DB-ID PAX6_00504
Base number 1
5' Sequence Context TTTCAG/
Original Sequence G
Variant Sequence A
3' Sequence Context CAAGTT
Type Substitution
Domain -
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
+/+ Unknown 03 Intron IVS3+1G>A c.-52+1G>A r.-128_142-95del p.? Exon skipping predicted by analogy with PAX6_00143 Effect on protein unknown PAX6_00504 1 TTTCAG/ G A CAAGTT Substitution - Direct Sequencing - - -