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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001692)
Patient ID Chassaing 2014 Patient 17
Disease Anophthalmia syndrome
Reference/Submitter [24033328], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Parents tested - de novo mutation
# Reported 1
Population -
Gender female
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype Bilateral anophthalmia, developmental delay, language delay, hypogonadism, GH deficiency. Hypoplasia of the vermis and corpus callosum by MRI.
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.513C>G
RNA change -
Protein change p.(Tyr171*)
RNA information Nonsense mutation predicted
Protein information PTC predicted
DB-ID SOX2_00099
Location ORF exon
Base number 513
5' Sequence Context CAGCTA
Original Sequence C
Variant Sequence G
3' Sequence Context AGCATG
Type Substitution
Domain CTD
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.513C>G - p.(Tyr171*) Nonsense mutation predicted PTC predicted SOX2_00099 ORF exon 513 CAGCTA C G AGCATG Substitution CTD Direct Sequencing - - -