LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000251)
Patient ID AKU_DB_117
Disease AKU
Reference Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Algeria
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_00033
Exon 06
DNA change c.368G>C
RNA change r.(?)
Protein p.(Gly123Ala)
Original description G123A
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Zatkova et al. (2012)
Mutation HOT-SPOT -
Allele code AKU_DB_117b
Type substitution
Re-site (-)BpmI; (+)PstI
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_00033 06 c.368G>C r.(?) p.(Gly123Ala) G123A missense Protomer destabilisation, Hexamer disruption Zatkova et al. (2012) - AKU_DB_117a substitution (-)BpmI; (+)PstI - DNA SEQ exon
+/+? Parent #1 AKU_00033 06 c.368G>C r.(?) p.(Gly123Ala) G123A missense Protomer destabilisation, Hexamer disruption Zatkova et al. (2012) - AKU_DB_117b substitution (-)BpmI; (+)PstI - DNA SEQ exon