LOVD - Variant listings for HGD

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Patient data (#0000601)
Patient ID AKU_DB_344
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 #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00236
Exon 13
DNA change c.1007G>A
RNA change r.(?)
Protein p.(Arg336Lys)
Original description R336K
Links -
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption, Active site disruption
Reference Kilavuz et al. 2018
Mutation HOT-SPOT ?
Allele code AKU_DB_344a
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_00236 13 c.1007G>A r.(?) p.(Arg336Lys) R336K - missense Hexamer disruption, Active site disruption Kilavuz et al. 2018 ? AKU_DB_344b substitution ? - DNA SEQ exon
+/+? Parent #1 AKU_00236 13 c.1007G>A r.(?) p.(Arg336Lys) R336K - missense Hexamer disruption, Active site disruption Kilavuz et al. 2018 ? AKU_DB_344a substitution ? - DNA SEQ exon