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 (#0001043)
Patient ID India SGPGI 1
Disease Familial Aniridia
Reference/Submitter Lucknow: City
Template DNA
Technique SEQ, SSCA
Remarks -
# Reported 1
Population Indian
Gender male
Sequence Inheritance Familial
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue -
Related Phenotype -
Unrelated  Phenotype -
Submitter Shagun Aggarwal

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 12
Location Intron
Legacy DNA ID IVS12+2T>C
DNA change c.1183+2T>C
RNA change r.spl?
Protein change p.?
RNA information Probable splice error
Protein information Effect on protein unknown
DB-ID PAX6_00580
Base number 1183
5' Sequence Context AACAG/G
Original Sequence T
Variant Sequence C
3' Sequence Context GAGCCA
Type Substitution
Domain PST
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 12 Intron IVS12+2T>C c.1183+2T>C r.spl? p.? Probable splice error Effect on protein unknown PAX6_00580 1183 AACAG/G T C GAGCCA Substitution PST Direct Sequencing - - -