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 (#0001600)
Patient ID	71158
Disease	Microcornea
Reference/Submitter	Wang 2012 [22893676], United Kingdom (Great Britain):Edinburgh
Template	DNA
Technique	SEQ
Remarks	Affected father not tested
# Reported	1
Population	35 Chinese microcornea cases
Gender	female
Sequence Inheritance	-
Phenotype Inheritance	Familial
Second PCR	-
CIS	-
Conserved residue	-
Related Phenotype	Bilateral microcornea (8 mm), ptosis, partial iris hypoplasia, mild optic nerve hypoplasia, foveal hypoplasia
Unrelated  Phenotype	-
Submitter	Isabel Hanson

Variant data
Allele	Paternal (inferred)
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	05
Location	Exon
Legacy DNA ID	-
DNA change	c.83_85delAGA   (View in UCSC Genome Browser)
RNA change	-
Protein change	p.(Lys28del)
RNA information	In-frame deletion of one codon predicted
Protein information	Deletion of lysine from first helix of PD
DB-ID	PAX6_00663
Base number	83
5' Sequence Context	GGCAGA
Original Sequence	AGA
Variant Sequence	-
3' Sequence Context	TTGTAG
Type	Deletion
Domain	PD
Detection Method	Direct Sequencing
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.83_85delAGA	-	p.(Lys28del)	In-frame deletion of one codon predicted	Deletion of lysine from first helix of PD	PAX6_00663	83	GGCAGA	AGA	-	TTGTAG	Deletion	PD	Direct Sequencing	-	-	-