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 (#0001648)
Patient ID P2
Disease Aniridia
Reference/Submitter [21904390], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population Chinese
Gender -
Sequence Inheritance -
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype Bilateral complete aniridia, congenital cataract, nystagmus
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 04
Location Intron
Legacy DNA ID IVS4-2A>G
DNA change c.11-2A>G   (View in UCSC Genome Browser)
RNA change r.spl?
Protein change p.?
RNA information Splice error predicted
Protein information Protein outcome unclear without RNA analysis
DB-ID PAX6_00671
Base number 11
5' Sequence Context TTCCTC
Original Sequence A
Variant Sequence G
3' Sequence Context G/GTCAC
Type Substitution
Domain PD
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks Variant absent from 100 controls

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 04 Intron IVS4-2A>G c.11-2A>G r.spl? p.? Splice error predicted Protein outcome unclear without RNA analysis PAX6_00671 11 TTCCTC A G G/GTCAC Substitution PD Direct Sequencing - - Variant absent from 100 controls