This database has been closed to new submissions.

LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0000878)
Patient ID Case 7
Disease Anophthalmia
Reference/Submitter [17522144] , United Kingdom (Great Britain):Edinburgh
Template DNA
Technique MLPA
Remarks -
# Reported 1
Population -
Gender female
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue n/a
Related Phenotype Bilateral anophthalmia
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele -
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change 3' gene deletion
RNA change r.?
Protein change p.?
RNA information Effect on transcription unknown
Protein information Effect on translation unknown
DB-ID SOX2_00033
Location Exon
Base number -
5' Sequence Context -
Original Sequence -
Variant Sequence -
3' Sequence Context -
Type Deletion
Domain Unknown
Detection Method MLPA
RE Site -
Frequency -
Remarks 3' end of gene deleted; proximal breakpoint between bases 154-698

1 entry in SOX2

Path. Allele
Exon 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
Location 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
+/+ - 01 - 3' gene deletion r.? p.? Effect on transcription unknown Effect on translation unknown SOX2_00033 Exon - - - - - Deletion Unknown MLPA - - 3' end of gene deleted; proximal breakpoint between bases 154-698