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 (#0000182)
Patient ID 802925
Disease Aniridia
Reference/Submitter [10737978], United States:
Template DNA
Technique SSCP, Heteroduplex Analysis
Remarks Patient P2 in Human Mutation 15 332-339
# Reported 1
Population -
Gender Female
Sequence Inheritance -
Phenotype Inheritance Sporadic
Second PCR Unknown
CIS Unknown
Conserved residue Unknown
Related Phenotype -
Unrelated  Phenotype Small precursor lesion found in the left kidney - thought not to be Wilms tumor
Submitter Grady F. Saunders

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.471del9
DNA change c.109_117del9   (View in UCSC Genome Browser)
RNA change -
Protein change p.(37_39del)
RNA information In-frame deletion of 9 bases predicted
Protein information Predicted deletion of Ala37, Arg38 and Pro39
DB-ID PAX6_00182
Base number 109
5' Sequence Context AGCGGG
Original Sequence GCCCGGCCG
Variant Sequence -
3' Sequence Context TGCGAC
Type Deletion
Domain PD
Detection Method SSCP, Heteroduplex Analysis
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 05 Exon c.471del9 c.109_117del9 - p.(37_39del) In-frame deletion of 9 bases predicted Predicted deletion of Ala37, Arg38 and Pro39 PAX6_00182 109 AGCGGG GCCCGGCCG - TGCGAC Deletion PD SSCP, Heteroduplex Analysis - - -