LOVD - Variant listings for HGD

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Patient data (#0000602)
Patient ID AKU_DB_345
Disease AKU
Reference Kilavuz et al. 2018, Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# 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_00237
Exon 10
DNA change c.679T>C
RNA change r.(?)
Protein p.(Phe227Leu)
Original description F227L
Links -
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Kilavuz et al. 2018
Mutation HOT-SPOT ?
Allele code AKU_DB_345b
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 #2 AKU_00237 10 c.679T>C r.(?) p.(Phe227Leu) F227L - missense Protomer destabilisation Kilavuz et al. 2018 ? AKU_DB_345b substitution ? - DNA SEQ exon
+/+? Parent #1 AKU_00237 10 c.679T>C r.(?) p.(Phe227Leu) F227L - missense Protomer destabilisation Kilavuz et al. 2018 ? AKU_DB_345a substitution ? - DNA SEQ exon