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

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Patient data (#0001941)
Patient ID Blanco-Kelly 2017
Disease Aniridia
Reference/Submitter Blanco-Kelly et al 2017 [28231309], Spain:Madrid
Template DNA
Technique CGH
Remarks Deletion of 63 Kb of exons 5a to 13 of PAX6 and ELP4, also detected by MLPA in the affected mother
# Reported 1
Population Spanish
Gender male
Sequence Inheritance Maternal
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue -
Related Phenotype Isolated aniridia
Unrelated  Phenotype -
Submitter Marta Corton

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID -
DNA change chr11:31,760,458-31,823,847
RNA change -
Protein change -
RNA information Deletion of exons 5a to 13. Effect on RNA unknown
Protein information -
DB-ID PAX6_00887
Base number -
5' Sequence Context -
Original Sequence -
Variant Sequence -
3' Sequence Context -
Type Deletion
Domain -
Detection Method CGH
RE Site -
Frequency -
Remarks Deletion of 63 Kb of exons 5a to 13 of PAX6 and ELP4, also detected by MLPA in the affected mother

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
+/+ Maternal (confirmed) 05 Exon - chr11:31,760,458-31,823,847 - - Deletion of exons 5a to 13. Effect on RNA unknown - PAX6_00887 - - - - - Deletion - CGH - - Deletion of 63 Kb of exons 5a to 13 of PAX6 and ELP4, also detected by MLPA in the affected mother