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 (#0000525)
Patient ID SPAN18
Disease Aniridia, Nystagmus
Reference/Submitter [9727514], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SSCP
Remarks -
# Reported 1
Population -
Gender Female
Sequence Inheritance -
Phenotype Inheritance Sporadic
Second PCR Unknown
CIS Unknown
Conserved residue n/a
Related Phenotype Nystagmus, keratopathy, glaucoma, macular hypoplasia, abnormal ERG (rod and cone)
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 04
Location Exon
Legacy DNA ID c.363AT>CA
DNA change c.1_2delATinsCA
RNA change -
Protein change p.(Met1?)
RNA information Initiation codon abolished: Met (aug) > Gln (cag)
Protein information Possible failure of translation or initiation from cryptic start sites
DB-ID PAX6_00125
Base number 1
5' Sequence Context GCCAGC
Original Sequence AT
Variant Sequence CA
3' Sequence Context GCAGAA
Type Insertion/Deletion
Domain -
Detection Method SSCP
RE Site SphI (-)
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 04 Exon c.363AT>CA c.1_2delATinsCA - p.(Met1?) Initiation codon abolished: Met (aug) > Gln (cag) Possible failure of translation or initiation from cryptic start sites PAX6_00125 1 GCCAGC AT CA GCAGAA Insertion/Deletion - SSCP SphI (-) - -