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 (#0001527)
Patient ID Kumar et al
Disease None
Reference/Submitter [21655361], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Change (presumed neutral) detected in cases and controls
# Reported 1
Population Indian
Gender -
Sequence Inheritance -
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue -
Related Phenotype -
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 06
Location Exon
Legacy DNA ID -
DNA change c.216T>G
RNA change -
Protein change p.(=)
RNA information ggt (Gly) > ggg (Gly) predicted
Protein information -
DB-ID PAX6_00635
Base number 216
5' Sequence Context AATCGG
Original Sequence T
Variant Sequence G
3' Sequence Context GGTAGT
Type Substitution
Domain PD
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 06 Exon - c.216T>G - p.(=) ggt (Gly) > ggg (Gly) predicted - PAX6_00635 216 AATCGG T G GGTAGT Substitution PD Direct Sequencing - - -