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 (#0000942)
Patient ID 284
Disease Aniridia
Reference/Submitter [18241071], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique DHPLC
Remarks -
# Reported 1
Population -
Gender -
Sequence Inheritance -
Phenotype Inheritance Sporadic
Second PCR Y
CIS -
Conserved residue -
Related Phenotype -
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 02
Location Exon
Legacy DNA ID c.225del13
DNA change -138_-129+3del13
RNA change r.spl?
Protein change p.?
RNA information Exon/intron junction deleted - probable splice error
Protein information Outcome unknown without RNA analysis
DB-ID PAX6_00502
Base number 1
5' Sequence Context AGGATG
Original Sequence CCTCATAAAG/GTG
Variant Sequence -
3' Sequence Context AGTCCG
Type Deletion
Domain -
Detection Method DHPLC
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 02 Exon c.225del13 -138_-129+3del13 r.spl? p.? Exon/intron junction deleted - probable splice error Outcome unknown without RNA analysis PAX6_00502 1 AGGATG CCTCATAAAG/GTG - AGTCCG Deletion - DHPLC - - -