LOVD - Variant listings for HGD

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Patient data (#0000266)
Patient ID AKU_POL_28
Disease -
Reference Vilboux et al. (2009), 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_00134
Exon 09i
DNA change c.650-86A>G
RNA change r.(?)
Protein p.(?)
Original description ivs9-86A>G
Variant remarks polymorphism, Rs2075504
Predicted Mutation Effect** -
Reference Vilboux et al. (2009)
Mutation HOT-SPOT -
Allele code AKU_POL_28
Type substitution
Re-site -
Frequency 0,057(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_00134 09i c.650-86A>G r.(?) p.(?) ivs9-86A>G polymorphism, Rs2075504 - Vilboux et al. (2009) - AKU_POL_28 substitution - 0,057(G) DNA SEQ intron