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 (#0001823)
Patient ID 108
Disease Aniridia
Reference/Submitter [26661695], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population -
Gender male
Sequence Inheritance -
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue -
Related Phenotype Classical aniridia
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID -
DNA change c.63-70delGCCGGACT
RNA change -
Protein change p.Pro22Hisfs*31
RNA information Frame-shifting deletion leading to PTC
Protein information NMD predicted - protein synthesis unlikely
DB-ID PAX6_00783
Base number 63
5' Sequence Context GCCACT
Original Sequence GCCGGACT
Variant Sequence -
3' Sequence Context CCACCC
Type Deletion
Domain PD
Detection Method Direct Sequencing
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.63-70delGCCGGACT - p.Pro22Hisfs*31 Frame-shifting deletion leading to PTC NMD predicted - protein synthesis unlikely PAX6_00783 63 GCCACT GCCGGACT - CCACCC Deletion PD Direct Sequencing - - -