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.

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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 (#0000415)
Patient ID	PY2K/015 AMBRI
Disease	Aniridia, Glaucoma
Reference/Submitter	[16712695], United Kingdom (Great Britain):Edinburgh
Template	DNA
Technique	DHPLC
Remarks	Alternate patient ID is MEP3-10
# Reported	1
Population	-
Gender	Female
Sequence Inheritance	-
Phenotype Inheritance	Familial
Second PCR	Yes
CIS	-
Conserved residue	Yes
Related Phenotype	Glaucoma secondary to bilateral aniridia. Probable familial case - deceased father had nystagmus and unilateral retinal detachment
Unrelated  Phenotype	-
Submitter	Isabel Hanson

Variant data
Allele	Paternal (inferred)
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	05
Location	Exon
Legacy DNA ID	c.468G>T
DNA change	c.106G>T   (View in UCSC Genome Browser)
RNA change	-
Protein change	p.(Gly36Trp)
RNA information	Gly (ggg) > Trp (ugg) predicted
Protein information	Predicted substitution of invariant glycine in paired domain
DB-ID	PAX6_00415
Base number	106
5' Sequence Context	CACAGC
Original Sequence	G
Variant Sequence	T
3' Sequence Context	GGGCCC
Type	Substitution
Domain	PD
Detection Method	DHPLC
RE Site	-
Frequency	-
Remarks	-

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
+/+	Paternal (inferred)	05	Exon	c.468G>T	c.106G>T	-	p.(Gly36Trp)	Gly (ggg) > Trp (ugg) predicted	Predicted substitution of invariant glycine in paired domain	PAX6_00415	106	CACAGC	G	T	GGGCCC	Substitution	PD	DHPLC	-	-	-