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 (#0001038)
Patient ID Maekawa et al
Disease Autism
Reference/Submitter [19607881], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population 285 autistic Japanese subjects
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 04
Location Intron
Legacy DNA ID IVS4-70_72delTCT
DNA change c.11-70_72delTCT
RNA change -
Protein change p.(=)
RNA information No effect predicted
Protein information No effect predicted
DB-ID PAX6_00577
Base number 11
5' Sequence Context CCTTCT
Original Sequence TCT
Variant Sequence -
3' Sequence Context CCCTCT
Type Deletion
Domain PD
Detection Method Direct Sequencing
RE Site -
Frequency 1/570
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 Intron IVS4-70_72delTCT c.11-70_72delTCT - p.(=) No effect predicted No effect predicted PAX6_00577 11 CCTTCT TCT - CCCTCT Deletion PD Direct Sequencing - 1/570 -