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 (#0000146)
Patient ID 31 (29795)
Disease Aniridia, Nystagmus
Reference/Submitter [10234503], Denmark:Glostrup
Template DNA
Technique Dideoxy Fingerprinting
Remarks -
# Reported 1
Population -
Gender Male
Sequence Inheritance -
Phenotype Inheritance -
Second PCR Unknown
CIS Unknown
Conserved residue n/a
Related Phenotype Mild nystagmus; lens ectopia
Unrelated  Phenotype -
Submitter Karen Groenskov

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 03
Location Exon
Legacy DNA ID c.246del4
DNA change c.-116_-112delTAAC
RNA change -
Protein change -
RNA information Effect unknown
Protein information Effect unknown
DB-ID PAX6_00146
Base number -
5' Sequence Context AGACTT
Original Sequence TAAC
Variant Sequence -
3' Sequence Context TAGGGG
Type Deletion
Domain -
Detection Method Dideoxy Fingerprinting
RE Site -
Frequency -
Remarks Deleted sequence was originally submitted as TGAC - presumed to be a typo, since actual sequence at this position is TAAC

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 Exon c.246del4 c.-116_-112delTAAC - - Effect unknown Effect unknown PAX6_00146 - AGACTT TAAC - TAGGGG Deletion - Dideoxy Fingerprinting - - Deleted sequence was originally submitted as TGAC - presumed to be a typo, since actual sequence at this position is TAAC