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LOVD - Variant listings for SOX2

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Patient data (#0000876)
Patient ID Case 5
Disease SOX2 Anophthalmia Syndrome
Reference/Submitter [17522144], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Protein change published as p.N24fs88X. HGVS nomenclature is p.Asn24ArgfsX65
# Reported 1
Population -
Gender female
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue n/a
Related Phenotype Bilateral anophthalmia. Normal cranial MRI, normal early development
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.70_89del20
RNA change -
Protein change p.(Asn24Argfs*65)
RNA information Frameshifting deletion predicted
Protein information Frameshift PTC - truncated protein predicted
DB-ID SOX2_00031
Location Exon
Base number 70
5' Sequence Context GGCGGC
Original Sequence AACTCCACCGCGGCGGCGGC
Variant Sequence -
3' Sequence Context CGGCGG
Type Deletion
Domain NTD
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks Deleted sequence is in triplet repeat region - replication slippage likely

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.70_89del20 - p.(Asn24Argfs*65) Frameshifting deletion predicted Frameshift PTC - truncated protein predicted SOX2_00031 Exon 70 GGCGGC AACTCCACCGCGGCGGCGGC - CGGCGG Deletion NTD Direct Sequencing - - Deleted sequence is in triplet repeat region - replication slippage likely