LOVD - Variant listings for HGD

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Patient data (#0000734)
Patient ID AKU_DB_434
Disease AKU
Reference Tao et al. (2022), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin China
Patient/Affected_per_Family 2
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00256
Exon 01
DNA change c.15G>A
RNA change r.(?)
Protein p.(Lys5Lys)
Original description K5K
Links -
Variant remarks silent/aberrant splicing
Predicted Mutation Effect** -
Reference Tao et al. (2022)
Mutation HOT-SPOT -
Allele code AKU_DB_434a
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_00256 01 c.15G>A r.(?) p.(Lys5Lys) K5K - silent/aberrant splicing - Tao et al. (2022) - AKU_DB_434a substitution ? - DNA SEQ exon
+/+? Parent #1 AKU_00256 01 c.15G>A r.(?) p.(Lys5Lys) K5K - silent/aberrant splicing - Tao et al. (2022) - AKU_DB_434b substitution ? - DNA SEQ exon