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 (#0000939)
Patient ID 190
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 -
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 02
Location Intron
Legacy DNA ID IVS2-2delA
DNA change c.-128-2delA
RNA change r.spl?
Protein change p.?
RNA information Probable splice error
Protein information Effect on translation unknown
DB-ID PAX6_00499
Base number 1
5' Sequence Context TCTT
Original Sequence A
Variant Sequence -
3' Sequence Context G/GGGGA
Type Deletion
Domain -
Detection Method DHPLC
RE Site DdeI (-)
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
?/? - 02 Intron IVS2-2delA c.-128-2delA r.spl? p.? Probable splice error Effect on translation unknown PAX6_00499 1 TCTT A - G/GGGGA Deletion - DHPLC DdeI (-) - -