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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0001729)
Patient ID 86MAC
Disease Microphthalmia
Reference/Submitter [25542770], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Unaffected daughter has same variant
# Reported 1
Population Caucasian
Gender male
Sequence Inheritance Familial
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue Yes
Related Phenotype Mild left microphthalmia
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 01
Legacy DNA ID -
DNA change c.481G>T
RNA change -
Protein change p.(Ala161Ser)
RNA information Ala (gcg) > Ser (ucg) predicted
Protein information Missense change predicted (Ala is conserved at this position in all vertebrates)
DB-ID SOX2_00115
Location ORF exon
Base number 481
5' Sequence Context AGTTAC
Original Sequence G
Variant Sequence T
3' Sequence Context CGCACA
Type Substitution
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.481G>T - p.(Ala161Ser) Ala (gcg) > Ser (ucg) predicted Missense change predicted (Ala is conserved at this position in all vertebrates) SOX2_00115 ORF exon 481 AGTTAC G T CGCACA Substitution - Direct Sequencing - - -