LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000276)
Patient ID AKU_POL_5
Disease -
Reference AKU database, Slovakia (Slovak Republic):Bratislava
Remarks -
# Reported 1
Geographic origin -
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
DB-ID AKU_00111
Exon 03i
DNA change c.177-50C>T
RNA change r.(?)
Protein p.(?)
Original description ivs3-50C>T
Variant remarks polymorphism
Predicted Mutation Effect** -
Reference AKU database
Mutation HOT-SPOT -
Allele code AKU_POL_5
Type substitution
Re-site -
Frequency 0,03(T)
Template DNA
Technique SEQ
Location intron

1 entry in HGD

Path.
Allele Descending
Ascending
DB-ID Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Original description Descending
Ascending
Variant remarks Descending
Ascending
Predicted Mutation Effect** Descending
Ascending
Reference Descending
Ascending
Mutation HOT-SPOT Descending
Ascending
Allele code Descending
Ascending
Type Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Location Descending
Ascending
-?/? Parent #1 AKU_00111 03i c.177-50C>T r.(?) p.(?) ivs3-50C>T polymorphism - AKU database - AKU_POL_5 substitution - 0,03(T) DNA SEQ intron