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LOVD - Variant listings for SOX2

About this overview [Show]

Patient data (#0000865)
Patient ID Patient 3
Disease Microphthalmia, Coloboma, Hypopituitarism
Reference/Submitter [16932809], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks -
# Reported 1
Population -
Gender male
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue n/a
Related Phenotype Left microphthalmia, right coloboma, hypogonadotropic hypogonadism, cryptorchidism, micropenis, learning delay, mild spastic paraplegia, 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 c.387delC
RNA change -
Protein change p.(Leu131Cysfs*23
RNA information Predicted frameshift leading to PTC
Protein information Truncated protein has impaired transactivation activity
DB-ID SOX2_00019
Location Exon
Base number 387
5' Sequence Context GCCCGG
Original Sequence C
Variant Sequence -
3' Sequence Context GGCTGC
Type Deletion
Domain CTD
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.387delC - p.(Leu131Cysfs*23 Predicted frameshift leading to PTC Truncated protein has impaired transactivation activity SOX2_00019 Exon 387 GCCCGG C - GGCTGC Deletion CTD Direct Sequencing - - -