LOVD - Variant listings for HGD

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Patient data (#0000261)
Patient ID AKU_POL_23
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 #2
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
DB-ID AKU_00129
Exon 04
DNA change c.260A>C
RNA change r.(?)
Protein p.(Glu87Ala)
Original description E87A
Variant remarks missense/polymorphism?, Rs35702995
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Vilboux et al. (2009)
Mutation HOT-SPOT -
Allele code AKU_POL_23
Type substitution
Re-site (+)SfaNI
Frequency -
Template DNA
Technique SEQ
Location exon

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_00129 04 c.260A>C r.(?) p.(Glu87Ala) E87A missense/polymorphism?, Rs35702995 Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) - AKU_POL_23 substitution (+)SfaNI - DNA SEQ exon