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 (#0001907)
Patient ID Patient 25
Disease Aniridia
Reference/Submitter [27081561], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique Other
Remarks Deletion detected by cytogenetic analysis
# Reported 1
Population -
Gender female
Sequence Inheritance -
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype Total aniridia, cataract, foveal hypoplasia. No mental retardation. No Wilms’ tumour
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon -
Location Whole gene
Legacy DNA ID PAX6 deletion
DNA change del(11)(p12p14.2)
RNA change r.0
Protein change p.0
RNA information All exons missing - no transcription
Protein information -
DB-ID PAX6_00867
Base number -
5' Sequence Context -
Original Sequence -
Variant Sequence -
3' Sequence Context -
Type Deletion
Domain -
Detection Method Other
RE Site -
Frequency -
Remarks Whole gene deletion detected by cytogenetic analysis

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 del(11)(p12p14.2) r.0 p.0 All exons missing - no transcription - PAX6_00867 - - - - - Deletion - Other - - Whole gene deletion detected by cytogenetic analysis