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 (#0000503)
Patient ID Case D
Disease Microphthalmia, Nystagmus, Cataract
Reference/Submitter [17417613], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique Direct Sequencing
Remarks There is no evidence that this change has a functional effect on RNA processing or that it has arisen de novo in this individual. Therefore it is best considered a polymorphism at present.
# Reported 1
Population -
Gender -
Sequence Inheritance -
Phenotype Inheritance Sporadic
Second PCR -
CIS No
Conserved residue No
Related Phenotype Microcornea, partial sclerocornea + band shaped keratitis in left eye. Normal brain CT scan
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity No known pathogenicity
Exon 02
Location Intron
Legacy DNA ID IVS2+9G>A
DNA change c.-129+9G>A
RNA change -
Protein change -
RNA information Intronic change does not affect any known splice signals
Protein information -
DB-ID PAX6_00404
Base number -
5' Sequence Context GAGTCC
Original Sequence G
Variant Sequence A
3' Sequence Context CTTCTT
Type -
Domain -
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 02 Intron IVS2+9G>A c.-129+9G>A - - Intronic change does not affect any known splice signals - PAX6_00404 - GAGTCC G A CTTCTT - - Direct Sequencing - - -