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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

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Patient data (#0001663)
Patient ID Patient 2 Skeens 2011
Disease Variant Aniridia
Reference/Submitter [21376398] , United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population -
Gender -
Sequence Inheritance -
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue -
Related Phenotype Keratopathy, limbal stem cell deficiency, abnormal corneal epithelium, iris hypoplasia
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 03
Location Intron
Legacy DNA ID IVS2-1G>T
DNA change c.-128-1G>T   (View in UCSC Genome Browser)
RNA change r.spl?
Protein change p.?
RNA information Probable splice error
Protein information Effect unknown
DB-ID PAX6_00680
Base number 1
5' Sequence Context GTCTTA
Original Sequence G
Variant Sequence T
3' Sequence Context /GGGGAA
Type Substitution
Domain 5'UTR
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 03 Intron IVS2-1G>T c.-128-1G>T r.spl? p.? Probable splice error Effect unknown PAX6_00680 1 GTCTTA G T /GGGGAA Substitution 5'UTR Direct Sequencing - - -