LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000505)
Patient ID AKU_TR2_0123
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Wales
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00168
Exon 02
DNA change c.52G>A
RNA change r.(?)
Protein p.(Asp18Asn)
Original description D18N
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Usher et al. (2015)
Mutation HOT-SPOT -
Allele code AKU_TR2_0123a
Type substitution
Re-site (+)HinfI,TfiI;(-)BamHI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI
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_00168 02 c.52G>A r.(?) p.(Asp18Asn) D18N missense Protomer destabilisation, Hexamer disruption Usher et al. (2015) - AKU_TR2_0123a substitution (+)HinfI,TfiI;(-)BamHI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI - DNA SEQ exon
+/+ Parent #2 AKU_00013 03 c.175delA r.(?) p.(Ser59Alafs*52) S59fs (R58fs) frameshift - de Bernabe et al. (1999b) - AKU_TR2_0123a deletion - - DNA SEQ exon