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

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Patient data (#0000542)
Patient ID D2001/78
Disease Peters anomaly
Reference/Submitter K Williamson & V van Heyningen, unpublished, United Kingdom (Great Britain):Edinburgh
Template DNA
Technique DHPLC
Remarks Substitution at position -41 of intron 4 is probably a neutral polymorphism
# Reported 1
Population -
Gender -
Sequence Inheritance -
Phenotype Inheritance -
Second PCR Yes
CIS -
Conserved residue No
Related Phenotype Bilateral Peters anomaly
Unrelated  Phenotype Tetralogy of Fallot; Hirschprung Disease
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 04
Location Intron
Legacy DNA ID IVS4-41T>C
DNA change c.11-41T>C
RNA change -
Protein change p.(=)
RNA information Substitution at intronic position -41 predicted; unlikely to affect splicing
Protein information No change expected
DB-ID PAX6_00410
Base number 11
5' Sequence Context GCTCTC
Original Sequence T
Variant Sequence C
3' Sequence Context TCTCCT
Type -
Domain -
Detection Method DHPLC
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 04 Intron IVS4-41T>C c.11-41T>C - p.(=) Substitution at intronic position -41 predicted; unlikely to affect splicing No change expected PAX6_00410 11 GCTCTC T C TCTCCT - - DHPLC - - -