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 (#0001774)
Patient ID 11.21
Disease Aniridia
Reference/Submitter [28321846], Russian Federation:Moscow
Template DNA
Technique SEQ
Remarks Mother with same mutation has partial aniridia
# Reported 1
Population -
Gender female
Sequence Inheritance -
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue -
Related Phenotype Aniridia complete, nystagmus, keratopathy grade I, lens subluxation
Unrelated  Phenotype Residual encephalopathy, mild hypotonic syndrome, talipes valgus, right palm chondroma
Submitter Tatiana Vassilieva

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 05
Location Exon
Legacy DNA ID -
DNA change c.19G>C
RNA change -
Protein change p.(Gly7Arg)
RNA information -
Protein information -
DB-ID PAX6_00732
Base number 19
5' Sequence Context CACAGC
Original Sequence G
Variant Sequence C
3' Sequence Context GAGTGA
Type Substitution
Domain -
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks vassilievat

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
+?/? Maternal (confirmed) 05 Exon - c.19G>C - p.(Gly7Arg) - - PAX6_00732 19 CACAGC G C GAGTGA Substitution - Direct Sequencing - - vassilievat