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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001049)
Patient ID Patient 6
Disease Anophthalmia / microphthalmia
Reference/Submitter [19921648], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Mutation is de novo in the patient
# 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 L anophthalmia, R microphthalmia. Micropenis. Pyloric stenosis. Suprasellar mass, prominent spaces in posterior fossa, and cavum septum pellucidum by brain MRI. Tonic-clonic seizures. Delayed gross motor development.
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.540C>G
RNA change -
Protein change p.(Tyr190*)
RNA information Nonsense mutation Tyr (uac) > Ter (uag) predicted
Protein information Truncated protein predicted
DB-ID SOX2_00063
Location ORF exon
Base number 540
5' Sequence Context GGGCTA
Original Sequence C
Variant Sequence G
3' Sequence Context CCGCAG
Type Substitution
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
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.540C>G - p.(Tyr190*) Nonsense mutation Tyr (uac) > Ter (uag) predicted Truncated protein predicted SOX2_00063 ORF exon 540 GGGCTA C G CCGCAG Substitution C-terminal domain Direct Sequencing - - -