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 (#0000397)
Patient ID ANF9-1
Disease Aniridia, Foveal Hypoplasia, Nystagmus
Reference/Submitter [16803629], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SSCP
Remarks -
# Reported 1
Population -
Gender Female
Sequence Inheritance -
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue n/a
Related Phenotype Father also affected
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.406_407delTT
DNA change c.44_45delTT   (View in UCSC Genome Browser)
RNA change -
Protein change p.(Phe15Argfs*40)
RNA information PTC predicted - NMD of RNA likely
Protein information Protein synthesis unlikely
DB-ID PAX6_00397
Base number 44
5' Sequence Context GTGTCT
Original Sequence TT
Variant Sequence -
3' Sequence Context GTCAAC
Type Deletion
Domain PD
Detection Method SSCP
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
+/+ Paternal (inferred) 05 Exon c.406_407delTT c.44_45delTT - p.(Phe15Argfs*40) PTC predicted - NMD of RNA likely Protein synthesis unlikely PAX6_00397 44 GTGTCT TT - GTCAAC Deletion PD SSCP - - -