LOVD - Variant listings for HGD

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Patient data (#0000524)
Patient ID AKU_TR2_0228
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Slovakia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00050
Exon 08
DNA change c.481G>A
RNA change r.(?)
Protein p.(Gly161Arg)
Original description G161R
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Gehrig et al. (1997)
Mutation HOT-SPOT CCC triplet
Allele code AKU_TR2_0228a
Type substitution
Re-site (-)BslI
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 #2 AKU_00152 03 c.158G>A r.(?) p.(Arg53Gln) R53Q missense Hexamer disruption Nemethova et al. (2016); Usher et al. (2015) CpG AKU_TR2_0228b substitution (-)BsaJI, BtgI - DNA SEQ exon
+/+ Parent #1 AKU_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR2_0228a substitution (-)BslI - DNA SEQ exon