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 (#0001820)
Patient ID -
Disease Congenital aniridia
Reference/Submitter Russian Federation:Moscow
Template DNA
Technique MLPA
Remarks -
# Reported 1
Population Karachay
Gender male
Sequence Inheritance de novo
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype OU complete aniridia, congenital cataract, glaucoma, microcornea
Unrelated  Phenotype Chest deformation
Submitter Tatiana Vassilieva

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 3-7
Location Exon
Legacy DNA ID -
DNA change chr11:31,778,912_31,794,631del
RNA change c.(?_-127)_523+?del
Protein change -
RNA information Deletion of exons 3-7. Abnormal splicing predicted.
Protein information -
DB-ID PAX6_00780
Base number -
5' Sequence Context -
Original Sequence -
Variant Sequence -
3' Sequence Context -
Type Deletion
Domain -
Detection Method MLPA
RE Site -
Frequency -
Remarks vassilievat

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 3-7 Exon - chr11:31,778,912_31,794,631del c.(?_-127)_523+?del - Deletion of exons 3-7. Abnormal splicing predicted. - PAX6_00780 - - - - - Deletion - MLPA - - vassilievat