LOVD - Variant listings for HGD

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Patient data (#0000614)
Patient ID AKU_DB_357
Disease AKU
Reference Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Turkey
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_00238
Exon 12
DNA change c.946G>A
RNA change r.(?)
Protein p.(Val316Ile)
Original description V316I
Links -
Variant remarks missense
Predicted Mutation Effect** ?
Reference Akbaba et al. 2020
Mutation HOT-SPOT -
Allele code AKU_DB_357b
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_DB_357a substitution (-)BslI - DNA SEQ exon
+/+? Parent #2 AKU_00238 12 c.946G>A r.(?) p.(Val316Ile) V316I - missense ? Akbaba et al. 2020 - AKU_DB_357b substitution ? - DNA SEQ exon