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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001044)
Patient ID Patient 1
Disease Anophthalmia / microphthalmia
Reference/Submitter [19921648], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population -
Gender female
Sequence Inheritance Unknown
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue -
Related Phenotype R anophthalmia, L microphthalmia + coloboma, glaucoma, and cataract. Some vision in the left eye. Vaginal adhesions. Small ears. Brain MRI normal. Delayed speech. ‘Drunken’ gait when walking.
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.16G>T
RNA change -
Protein change p.(Glu6*)
RNA information Glu (gag) > Ter (uag) predicted
Protein information Termination of translation predicted
DB-ID SOX2_00058
Location ORF exon
Base number 16
5' Sequence Context ATGATG
Original Sequence G
Variant Sequence T
3' Sequence Context AGACGG
Type Substitution
Domain N-terminal domain
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.16G>T - p.(Glu6*) Glu (gag) > Ter (uag) predicted Termination of translation predicted SOX2_00058 ORF exon 16 ATGATG G T AGACGG Substitution N-terminal domain Direct Sequencing - - -