LOVD - Variant listings for HGD

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Patient data (#0000256)
Patient ID AKU_POL_19
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_00125
Exon 13i
DNA change c.1188+51A>G
RNA change r.(?)
Protein p.(?)
Original description ivs13+51A>G
Variant remarks polymorphism, found in one algerian normal chromosome
Predicted Mutation Effect** -
Reference AKU database
Mutation HOT-SPOT -
Allele code AKU_POL_19
Type substitution
Re-site -
Frequency 0,006(G)
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_00125 13i c.1188+51A>G r.(?) p.(?) ivs13+51A>G polymorphism, found in one algerian normal chromosome - AKU database - AKU_POL_19 substitution - 0,006(G) DNA SEQ intron