LOVD - Variant listings for HGD

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Patient data (#0000414)
Patient ID AKU_TR2_0320
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin France
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00143
Exon 13
DNA change c.1081G>A
RNA change r.(?)
Protein p.(Gly361Arg)
Original description G361R
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Zatkova et al. (2012)
Mutation HOT-SPOT CCC triplet
Allele code AKU_TR2_0320a
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_00184 12 c.995C>G r.(?) p.(Pro332Arg) P332R missense - submitted - AKU_TR2_0320b substitution ? - DNA SEQ exon
+/+? Parent #2 AKU_00143 13 c.1081G>A r.(?) p.(Gly361Arg) G361R missense Protomer destabilisation Zatkova et al. (2012) CCC triplet AKU_TR2_0320a substitution - - DNA SEQ exon