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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0000877)
Patient ID Case 6
Disease Anophthalmia
Reference/Submitter [17522144], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Protein change published as p.K95fs109X. HGVS nomenclature is p.Arg96Alafs*14
# Reported 1
Population -
Gender male
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue n/a
Related Phenotype Bilateral anophthalmia
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.285dupG
RNA change -
Protein change p.(Arg96Alafs*14)
RNA information Frameshifting insertion predicted
Protein information Frameshift creates PTC - truncated protein predicted
DB-ID SOX2_00032
Location Exon
Base number 285
5' Sequence Context GCTAAG
Original Sequence -
Variant Sequence G
3' Sequence Context CGGCTG
Type Duplication
Domain HMG
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.285dupG - p.(Arg96Alafs*14) Frameshifting insertion predicted Frameshift creates PTC - truncated protein predicted SOX2_00032 Exon 285 GCTAAG - G CGGCTG Duplication HMG Direct Sequencing - - -