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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001972)
Patient ID Dennert et al 2017 Patient 1
Disease Intellectual disability
Reference/Submitter [27862890], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique Other
Remarks Whole exome sequencing
# Reported 1
Population -
Gender male
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue -
Related Phenotype Moderate/severe intellectual disability, dysmorphic features, oesophageal dysfunction
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
Legacy DNA ID -
DNA change c.355C>T
RNA change -
Protein change p.(Pro112Leu)
RNA information Pro (ccc) > Leu (cuc)
Protein information Amino acid substitution predicted
DB-ID SOX2_00122
Location ORF exon
Base number 335
5' Sequence Context ACCGGC
Original Sequence C
Variant Sequence T
3' Sequence Context CCGGCG
Type Substitution
Domain -
Detection Method Other
RE Site -
Frequency -
Remarks Whole exome sequencing

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.355C>T - p.(Pro112Leu) Pro (ccc) > Leu (cuc) Amino acid substitution predicted SOX2_00122 ORF exon 335 ACCGGC C T CCGGCG Substitution - Other - - Whole exome sequencing