LOVD - Variant listings for HGD

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Patient data (#0000284)
Patient ID AKU_POL_12
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_00118
Exon 04i
DNA change c.283-4T>C
RNA change r.(?)
Protein p.(?)
Original description ivs4-4T>C
Variant remarks aberrant splicing (AS)/exon skipping, polymorphism?
Predicted Mutation Effect** -
Reference AKU database
Mutation HOT-SPOT -
Allele code AKU_POL_12
Type substitution
Re-site -
Frequency 0,001(C)
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_00118 04i c.283-4T>C r.(?) p.(?) ivs4-4T>C aberrant splicing (AS)/exon skipping, polymorphism? - AKU database - AKU_POL_12 substitution - 0,001(C) DNA SEQ intron