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LOVD - Variant listings for SOX2

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Patient data (#0001728)
Patient ID 93MAC
Disease Anophthalmia
Reference/Submitter [25542770], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Parents negative for mutation
# Reported 1
Population Caucasian
Gender male
Sequence Inheritance Sporadic
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue -
Related Phenotype Bilateral anophthalmia. Brain anomalies by MRI; epilepsy; hypogenitalism; vertebral anomalies.
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.53C>A
RNA change -
Protein change p.(Ser18*)
RNA information Ser (ucg) > Ter (uag) predicted
Protein information Nonsense PTC - truncated protein predicted
DB-ID SOX2_00114
Location Exon
Base number 53
5' Sequence Context AAACTT
Original Sequence C
Variant Sequence A
3' Sequence Context GGGGGG
Type Substitution
Domain NTD
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.53C>A - p.(Ser18*) Ser (ucg) > Ter (uag) predicted Nonsense PTC - truncated protein predicted SOX2_00114 Exon 53 AAACTT C A GGGGGG Substitution NTD Direct Sequencing - - -