LOVD - Variant listings for HGD

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Patient data (#0000417)
Patient ID AKU_TR2_0331
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Algeria/Spain
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_00187
Exon 08
DNA change c.509G>C
RNA change r.(?)
Protein p.(Gly170Ala)
Original description G170A
Variant remarks missense
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_TR2_0331b
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_00187 08 c.509G>C r.(?) p.(Gly170Ala) G170A missense - submitted - AKU_TR2_0331b substitution ? - DNA SEQ exon
+/+ Parent #2 AKU_00065 09 c.647T>C r.(?) p.(Ile216Thr) I216T missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1998) - AKU_TR2_0331a substitution (-)MfeI; (+)BsrI - DNA SEQ exon