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 (#0001778)
Patient ID 26.03
Disease Aniridia
Reference/Submitter [28321846], Russian Federation:Moscow
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population -
Gender male
Sequence Inheritance de novo
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype OU: Aniridia complete, nystagmus, clear lens. rnMuscular dystonia.
Unrelated  Phenotype -
Submitter Tatiana Vassilieva

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 02
Location Intron
Legacy DNA ID IVS2-2delA
DNA change c.-128-2delA
RNA change r.spl?
Protein change -
RNA information Probable splice error
Protein information Effect on translation unknown
DB-ID PAX6_00750
Base number -
5' Sequence Context TGTCTT
Original Sequence A
Variant Sequence -
3' Sequence Context G/GGGGA
Type Deletion
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 02 Intron IVS2-2delA c.-128-2delA r.spl? - Probable splice error Effect on translation unknown PAX6_00750 - TGTCTT A - G/GGGGA Deletion - Direct Sequencing - - -