LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000530)
Patient ID AKU_TR2_0237
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 #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00083
Exon 12
DNA change c.899T>G
RNA change r.(?)
Protein p.(Val300Gly)
Original description V300G
Links -
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Fernandez Canon et al. (1996)
Mutation HOT-SPOT -
Allele code AKU_TR2_0237a
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
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 #1 AKU_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R rs28941783 missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR2_0237b substitution (-)BslI - DNA SEQ exon
+/+ Parent #2 AKU_00083 12 c.899T>G r.(?) p.(Val300Gly) V300G - missense Protomer destabilisation Fernandez Canon et al. (1996) - AKU_TR2_0237a substitution - - DNA SEQ exon