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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001048)
Patient ID Patient 5
Disease Anophthalmia
Reference/Submitter [19921648], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population Mixed ethnicity; patient is Caucasian
Gender male
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR Yes
CIS No
Conserved residue -
Related Phenotype Bilateral anophthalmia. Low growth hormone levels. Micropenis. Cavum septum pellucidum, non-specific periventricular white matter signal abnormality, and abnormal configuration of the pituitary and sellar structures by MRI. Gastric reflux. Global 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.486_487dupCA
RNA change -
Protein change p.(Met163Thrfs*2)
RNA information Predicted frameshifting insertion, followed immediately by termination codon.
Protein information Termination of translation predicted
DB-ID SOX2_00062
Location ORF exon
Base number 486
5' Sequence Context CGCGCA
Original Sequence -
Variant Sequence CA
3' Sequence Context TGAACG
Type Duplication
Domain C-terminal domain
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
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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.486_487dupCA - p.(Met163Thrfs*2) Predicted frameshifting insertion, followed immediately by termination codon. Termination of translation predicted SOX2_00062 ORF exon 486 CGCGCA - CA TGAACG Duplication C-terminal domain Direct Sequencing - - -