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 (#0000408)
Patient ID	D2006/65
Disease	Aniridia
Reference/Submitter	K Williamson & V van Heyningen, unpublished, United Kingdom (Great Britain):Edinburgh
Template	DNA
Technique	DHPLC
Remarks	-
# Reported	1
Population	-
Gender	Female
Sequence Inheritance	-
Phenotype Inheritance	-
Second PCR	Yes
CIS	-
Conserved residue	Yes
Related Phenotype	-
Unrelated  Phenotype	-
Submitter	Isabel Hanson

Variant data
Allele	Unknown
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	04
Location	Exon
Legacy DNA ID	c.364T>G
DNA change	c.2T>G
RNA change	-
Protein change	p.(Met1?)
RNA information	Initiation codon abolished: Met (aug) > Arg (agg)
Protein information	Possible failure of translation or initation from cryptic sites
DB-ID	PAX6_00408
Base number	2
5' Sequence Context	CCAGCA
Original Sequence	T
Variant Sequence	G
3' Sequence Context	GCAGAA
Type	Substitution
Domain	-
Detection Method	DHPLC
RE Site	SphI (-)
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
+/+	Unknown	04	Exon	c.364T>G	c.2T>G	-	p.(Met1?)	Initiation codon abolished: Met (aug) > Arg (agg)	Possible failure of translation or initation from cryptic sites	PAX6_00408	2	CCAGCA	T	G	GCAGAA	Substitution	-	DHPLC	SphI (-)	-	-