LOVD - Variant listings for HGD

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Patient data (#0000254)
Patient ID AKU_POL_17
Disease -
Reference AKU database, Slovakia (Slovak Republic):Bratislava
Remarks -
# Reported 1
Geographic origin Slovakia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
DB-ID AKU_00123
Exon 11
DNA change c.832A>G
RNA change r.(?)
Protein p.(Asn278Asp)
Original description N278D
Variant remarks missense/polymorphism?, found in one normal chromosome
Predicted Mutation Effect** Protomer destabilisation
Reference AKU database
Mutation HOT-SPOT -
Allele code AKU_POL_17
Type substitution
Re-site -
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 #1 AKU_00123 11 c.832A>G r.(?) p.(Asn278Asp) N278D missense/polymorphism?, found in one normal chromosome Protomer destabilisation AKU database - AKU_POL_17 substitution - - DNA SEQ exon