LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000004)
Patient ID AKU_DB_100
Disease AKU
Reference Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin South Korea
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_00041
Exon 07
DNA change c.455G>C
RNA change r.(?)
Protein p.(Gly152Ala)
Original description G152A
Links rs1553717936
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Zatkova et al. (2012)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_100b
Type substitution
Re-site (-)BsmFI; (+)AciI
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_00007 03 c.98A>G r.(?) p.(Gln33Arg) Q33R - missense Hexamer disruption Zatkova et al. (2012) - AKU_DB_100a substitution (+)BsoBI, AvaI - DNA SEQ exon
+/+? Parent #2 AKU_00041 07 c.455G>C r.(?) p.(Gly152Ala) G152A rs1553717936 missense Protomer destabilisation, Hexamer disruption Zatkova et al. (2012) CCC triplet AKU_DB_100b substitution (-)BsmFI; (+)AciI - DNA SEQ exon