MRC Human Genetics Unit LOVD at MRC IGMM Paired box gene 6 (PAX6)	LOVD v.2.0 Build 30 [ Current LOVD status ] | Log in
	Curators: Graeme Grimes, Isabel Hanson, Kathy Williamson and Veronica van Heyningen

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.

About this overview [Show]
This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0001910)
Patient ID	2193
Disease	Aniridia
Reference/Submitter	[27124303], United Kingdom (Great Britain):Edinburgh
Template	DNA
Technique	CGH
Remarks	-
# Reported	1
Population	-
Gender	female
Sequence Inheritance	-
Phenotype Inheritance	Familial
Second PCR	-
CIS	-
Conserved residue	-
Related Phenotype	Aniridia
Unrelated  Phenotype	-
Submitter	Isabel Hanson

Variant data
Allele	Unknown
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	-
Location	Whole gene
Legacy DNA ID	PAX6 deletion
DNA change	chr11:31,199,000-31,849,000del
RNA change	r.0
Protein change	p.0
RNA information	All exons missing - no transcription
Protein information	-
DB-ID	PAX6_00870
Base number	-
5' Sequence Context	-
Original Sequence	-
Variant Sequence	-
3' Sequence Context	-
Type	Deletion
Domain	-
Detection Method	CGH
RE Site	-
Frequency	-
Remarks	Whole gene deletion (650kb) also detected by FISH

1 entry in PAX6

Path.	Allele	Exon	Location	Legacy DNA ID	DNA change	RNA change	Protein change	RNA information	Protein information	DB-ID	Base number	5' Sequence Context	Original Sequence	Variant Sequence	3' Sequence Context	Type	Domain	Detection Method	RE Site	Frequency	Remarks
+/+	Unknown	-	Whole gene	PAX6 deletion	chr11:31,199,000-31,849,000del	r.0	p.0	All exons missing - no transcription	-	PAX6_00870	-	-	-	-	-	Deletion	-	CGH	-	-	Whole gene deletion (650kb) also detected by FISH