LOVD - Variant listings for HGD

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Patient data (#0000422)
Patient ID AKU_DB_231
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00194
Exon 02
DNA change c.52G>T
RNA change r.(?)
Protein p.(Asp18Tyr)
Original description D18Y
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_DB_231a
Type substitution
Re-site -
Frequency -
Template DNA
Technique SEQ
Location exon

2 entries 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_00194 02 c.52G>T r.(?) p.(Asp18Tyr) D18Y missense Protomer destabilisation, Hexamer disruption submitted - AKU_DB_231a substitution - - DNA SEQ exon
+/? Parent #1 AKU_00195 08 c.508G>A r.(?) p.(Gly170Ser) G170S missense Protomer destabilisation, Hexamer disruption submitted - AKU_DB_231b substitution - - DNA SEQ exon