LOVD - Variant listings for HGD

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Patient data (#0000253)
Patient ID AKU_POL_16
Disease -
Reference de Bernabe et al. (1999b), Slovakia (Slovak Republic):Bratislava
Remarks -
# Reported 1
Geographic origin -
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
DB-ID AKU_00122
Exon 11i
DNA change c.879+18A>G
RNA change r.(?)
Protein p.(?)
Original description ivs11+18A>G
Variant remarks polymorphism, Rs1800700
Predicted Mutation Effect** -
Reference de Bernabe et al. (1999b)
Mutation HOT-SPOT -
Allele code AKU_POL_16
Type substitution
Re-site -
Frequency 0,02(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 #2 AKU_00122 11i c.879+18A>G r.(?) p.(?) ivs11+18A>G polymorphism, Rs1800700 - de Bernabe et al. (1999b) - AKU_POL_16 substitution - 0,02(G) DNA SEQ intron