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 (#0001644)
Patient ID II:1
Disease Aniridia
Reference/Submitter [24787241], China:Fuzhou
Template DNA
Technique SEQ
Remarks Same mutation present in the affected son of the proband but not in the proband's unaffected parents.
# Reported 1
Population China
Gender male
Sequence Inheritance -
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue -
Related Phenotype Foveal hypoplasia, nystagmus and presenile cataracts
Unrelated  Phenotype -
Submitter Juhua Yang

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 5
Location Exon
Legacy DNA ID c.457_467dupTAGCTCACAGC
DNA change c.95_105dup11
RNA change -
Protein change p.(Gly36*)
RNA information Duplication of 11 bases predicted
Protein information Protein synthesis unlikely
DB-ID PAX6_00668
Base number 95
5' Sequence Context GTAGAGC
Original Sequence -
Variant Sequence -
3' Sequence Context GGGGCCC
Type Duplication
Domain PD
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks de novo mutation

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 (confirmed) 5 Exon c.457_467dupTAGCTCACAGC c.95_105dup11 - p.(Gly36*) Duplication of 11 bases predicted Protein synthesis unlikely PAX6_00668 95 GTAGAGC - - GGGGCCC Duplication PD Direct Sequencing - - de novo mutation