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 (#0000018)
Patient ID VMR1
Disease Aniridia
Reference/Submitter [7909985], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SSCP
Remarks Passed from females 7x and from males 6x in large pedigree
# Reported 1
Population -
Gender Female
Sequence Inheritance -
Phenotype Inheritance Familial
Second PCR Unknown
CIS Unknown
Conserved residue n/a
Related Phenotype -
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.434ins11
DNA change c.72_73ins11
RNA change -
Protein change p.(Thr25Cysfs*10)
RNA information Predicted frameshift leading to PTC - NMD likely
Protein information Protein synthesis unlikely
DB-ID PAX6_00018
Base number 72
5' Sequence Context GACTCC
Original Sequence -
Variant Sequence TGCGGACCTCC
3' Sequence Context ACCCGG
Type Insertion
Domain PD
Detection Method SSCP
RE Site -
Frequency -
Remarks Insertion appears to be a duplication with an extra base added

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.434ins11 c.72_73ins11 - p.(Thr25Cysfs*10) Predicted frameshift leading to PTC - NMD likely Protein synthesis unlikely PAX6_00018 72 GACTCC - TGCGGACCTCC ACCCGG Insertion PD SSCP - - Insertion appears to be a duplication with an extra base added