LOVD - Variant listings for HGD

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Patient data (#0000480)
Patient ID AKU_DB_281
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# 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 Probably pathogenic
DB-ID AKU_00095
Exon 13
DNA change c.1078G>C
RNA change r.(?)
Protein p.(Gly360Arg)
Original description G360R
Links rs368717991
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Porfirio et al. (2000)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_281a
Type substitution
Re-site (-)BstNI, ScrFI
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
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_00095 13 c.1078G>C r.(?) p.(Gly360Arg) G360R rs368717991 missense Protomer destabilisation Porfirio et al. (2000) CCC triplet AKU_DB_281b substitution (-)BstNI, ScrFI - DNA SEQ exon
+/+? Parent #1 AKU_00095 13 c.1078G>C r.(?) p.(Gly360Arg) G360R rs368717991 missense Protomer destabilisation Porfirio et al. (2000) CCC triplet AKU_DB_281a substitution (-)BstNI, ScrFI - DNA SEQ exon