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 (#0000910)
Patient ID	133
Disease	Aniridia
Reference/Submitter	[18241071], United Kingdom (Great Britain):Edinburgh
Template	DNA
Technique	DHPLC
Remarks	-
# Reported	1
Population	-
Gender	-
Sequence Inheritance	-
Phenotype Inheritance	Familial
Second PCR	Y
CIS	-
Conserved residue	-
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.366delC
DNA change	c.4delC   (View in UCSC Genome Browser)
RNA change	-
Protein change	p.(Gln2Argfs*7)
RNA information	Frameshift predicted, leading to PTC
Protein information	NMD predicted - protein synthesis unlikely
DB-ID	PAX6_00471
Base number	4
5' Sequence Context	AGCATG
Original Sequence	C
Variant Sequence	-
3' Sequence Context	AGAACA
Type	Substitution
Domain	-
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
+/+	Unknown	04	Exon	c.366delC	c.4delC	-	p.(Gln2Argfs*7)	Frameshift predicted, leading to PTC	NMD predicted - protein synthesis unlikely	PAX6_00471	4	AGCATG	C	-	AGAACA	Substitution	-	DHPLC	-	-	-