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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001671)
Patient ID Case 3303
Disease Anophthalmia/microphthalmia
Reference/Submitter (24498598), United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Mutation absent in unaffected parents
# Reported 1
Population German
Gender female
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR Yes
CIS No
Conserved residue -
Related Phenotype Right anophthalmia, left microphthalmia and coloboma. Front cerebral volume reduction by MRI.
Severe developmental delay
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.479_480dupAC
RNA change -
Protein change p.(Ala161Thrfs*4)
RNA information Frame-shifting insertion predicted
Protein information Truncated protein predicted
DB-ID SOX2_00079
Location ORF exon
Base number 479
5' Sequence Context ACAGTT
Original Sequence AC
Variant Sequence ACAC
3' Sequence Context GCGCAC
Type Substitution
Domain C-terminal
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks -

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
+/+ Unknown 01 - c.479_480dupAC - p.(Ala161Thrfs*4) Frame-shifting insertion predicted Truncated protein predicted SOX2_00079 ORF exon 479 ACAGTT AC ACAC GCGCAC Substitution C-terminal Direct Sequencing - - -