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 (#0001942)
Patient ID Blanco-Kelly 2017
Disease Aniridia
Reference/Submitter Blanco-Kelly et al 2017 [28231309], Spain:Madrid
Template DNA
Technique CGH
Remarks Whole gene deletion (13.9 Mb), also detected by MLPA
# Reported 1
Population Spanish
Gender female
Sequence Inheritance de novo
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype Syndromic aniridia
Unrelated  Phenotype -
Submitter Marta Corton

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon -
Location Whole gene
Legacy DNA ID PAX6 deletion
DNA change chr11:18,536,224-31,923,308
RNA change r.0
Protein change p.0
RNA information All exons missing - no transcription
Protein information -
DB-ID PAX6_00888
Base number -
5' Sequence Context -
Original Sequence -
Variant Sequence -
3' Sequence Context -
Type Deletion
Domain -
Detection Method CGH
RE Site -
Frequency -
Remarks Whole gene deletion (13.9 Mb), also detected by MLPA

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 - Whole gene PAX6 deletion chr11:18,536,224-31,923,308 r.0 p.0 All exons missing - no transcription - PAX6_00888 - - - - - Deletion - CGH - - Whole gene deletion (13.9 Mb), also detected by MLPA