LOVD - Variant listings for HGD

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Patient data (#0000279)
Patient ID AKU_POL_8
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 #2
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
DB-ID AKU_00114
Exon 04i
DNA change al.175-201;(CA)n
RNA change r.(?)
Protein p.(?)
Original description HGO-3, D3S4556
Variant remarks polymorphism
Predicted Mutation Effect** -
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT -
Allele code AKU_POL_8
Type dinucleotide repeat
Re-site -
Frequency 0,208(al.189);0,2(al.193)
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_00114 04i al.175-201;(CA)n r.(?) p.(?) HGO-3, D3S4556 polymorphism - de Bernabe et al. (1998) - AKU_POL_8 dinucleotide repeat - 0,208(al.189);0,2(al.193) DNA SEQ intron