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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0000884)
Patient ID Patient 1
Disease Anophthalmia, Microphthalmia, Hypopituitarism
Reference/Submitter [18285410], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique FISH
Remarks -
# Reported 1
Population -
Gender female
Sequence Inheritance Sporadic
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue -
Related Phenotype Right anophthalmia, left microphthalmia, mild pulmonary stenosis, pituitary anomalies, global developmental delay, brain anomalies by MRI
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change Whole gene deletion chr3:181216930-189014508
RNA change r.0
Protein change p.0
RNA information No transcription
Protein information No translation
DB-ID SOX2_00039
Location Whole Gene
Base number -
5' Sequence Context -
Original Sequence -
Variant Sequence -
3' Sequence Context -
Type Deletion
Domain -
Detection Method FISH
RE Site -
Frequency -
Remarks Patient has a 7.8Mb deletion (detected by FISH, confirmed by CGH)

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 - Whole gene deletion chr3:181216930-189014508 r.0 p.0 No transcription No translation SOX2_00039 Whole Gene - - - - - Deletion - FISH - - Patient has a 7.8Mb deletion (detected by FISH, confirmed by CGH)