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LOVD - Variant listings for SOX2

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Patient data (#0000854)
Patient ID Case 8
Disease SOX2 Anophthalmia Syndrome
Reference/Submitter [15812812], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique DHPLC
Remarks -
# Reported 1
Population -
Gender female
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR Y
CIS -
Conserved residue Y
Related Phenotype Left microphthalmia, sclerocornea, aphakia; right severe microphthalmia. Learning disability, dyspraxia, limb hypotonia, truncal ataxia, febrile convulsions
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele -
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.290T>C
RNA change -
Protein change p.(Leu97Pro)
RNA information Leu (cug) > Pro (ccg) missense change predicted
Protein information Predicted amino acid substitution in HMG box
DB-ID SOX2_00008
Location Exon
Base number 290
5' Sequence Context AGCGGC
Original Sequence T
Variant Sequence C
3' Sequence Context GCGAGC
Type Substitution
Domain HMG
Detection Method DHPLC
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
+/+ - 01 - c.290T>C - p.(Leu97Pro) Leu (cug) > Pro (ccg) missense change predicted Predicted amino acid substitution in HMG box SOX2_00008 Exon 290 AGCGGC T C GCGAGC Substitution HMG DHPLC - - -