LOVD - Variant listings for HGD

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Patient data (#0000286)
Patient ID AKU_POL_14
Disease -
Reference de Bernabe et al. (1998), 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_00120
Exon 06i
DNA change c.434+46C>A
RNA change r.(?)
Protein p.(?)
Original description ivs6+46C>A
Variant remarks polymorphism, Rs3817627
Predicted Mutation Effect** -
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT -
Allele code AKU_POL_14
Type substitution
Re-site -
Frequency 0,31(A)
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_00120 06i c.434+46C>A r.(?) p.(?) ivs6+46C>A polymorphism, Rs3817627 - de Bernabe et al. (1998) - AKU_POL_14 substitution - 0,31(A) DNA SEQ intron