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.

LOVD - Variant listings for PAX6

About this overview [Show]

Patient data (#0001818)
Patient ID A-37
Disease Congenital aniridia
Reference/Submitter [28321846], Russian Federation:Moscow
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population Russian
Gender female
Sequence Inheritance de novo
Phenotype Inheritance Sporadic
Second PCR yes
CIS no
Conserved residue yes
Related Phenotype OU: complete aniridia, disc hypoplasia, nystagmus, microcornea
Unrelated  Phenotype Right kidney doubling
Submitter Tatiana Vassilieva

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 04
Location Exon
Legacy DNA ID -
DNA change c.1A>C
RNA change -
Protein change p.(Met1?)
RNA information Initiation codon abolished: Met (atg) > Leu (ctg)
Protein information Possible failure of translation or initiation from cryptic start sites
DB-ID PAX6_00776
Base number 1
5' Sequence Context CCAGC
Original Sequence A
Variant Sequence C
3' Sequence Context TGCAG
Type Substitution
Domain -
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks -

1 entry in PAX6

Path. Allele
Exon Descending
Ascending
Location Descending
Ascending
Legacy DNA ID Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
RNA information Descending
Ascending
Protein information Descending
Ascending
DB-ID Descending
Ascending
Base number Descending
Ascending
5' Sequence Context Descending
Ascending
Original Sequence Descending
Ascending
Variant Sequence Descending
Ascending
3' Sequence Context Descending
Ascending
Type Descending
Ascending
Domain Descending
Ascending
Detection Method Descending
Ascending
RE Site Descending
Ascending
Frequency Descending
Ascending
Remarks Descending
Ascending
+/+ Unknown 04 Exon - c.1A>C - p.(Met1?) Initiation codon abolished: Met (atg) > Leu (ctg) Possible failure of translation or initiation from cryptic start sites PAX6_00776 1 CCAGC A C TGCAG Substitution - Direct Sequencing - - -