LOVD - Variant listings for HGD

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Patient data (#0000437)
Patient ID AKU_TR3_0122
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Germany/Peru
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00200
Exon 01-04
DNA change c.(?_1)_(282+1_283-1)del
RNA change r.(?)
Protein p.(?)
Original description ex1,2,3,4 del
Links -
Variant remarks deletion
Predicted Mutation Effect** -
Reference Ascher et al. (2019)
Mutation HOT-SPOT -
Allele code AKU_TR3_0122b
Type deletion
Re-site -
Frequency -
Template DNA
Technique SEQ, MLPA
Location multiple exons

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
Links 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_00200 01-04 c.(?_1)_(282+1_283-1)del r.(?) p.(?) ex1,2,3,4 del - deletion - Ascher et al. (2019) - AKU_TR3_0122b deletion - - DNA SEQ, MLPA multiple exons
+/+? Parent #1 AKU_00079 11 c.808G>A r.(?) p.(Gly270Arg) G270R rs120074174 missense Protomer destabilisation, Hexamer disruption Muller et al. (1999) CCC triplet, CpG AKU_TR3_0122a substitution (+)EcoNI - DNA SEQ exon