LOVD - Variant listings for HGD

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Patient data (#0000735)
Patient ID AKU_DB_435
Disease AKU
Reference 36253209: Puente et al. (2022), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Spain
Patient/Affected_per_Family 2
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00025
Exon 05i
DNA change c.342+1G>A
RNA change r.(spl?)
Protein p.(Leu95_Ser114del)
Original description ivs5+1G>A
Links rs397515518
Variant remarks aberrant splicing (DS)/exon skipping/in frame deletion?
Predicted Mutation Effect** -
Reference Muller et al. (1999)
Mutation HOT-SPOT c.342+1G
Allele code AKU_DB_435b
Type substitution
Re-site -
Frequency -
Template DNA
Technique SEQ
Location intron

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_00260 05 c.335T>C r.(?) p.(Phe112Val) F112S - missense - 36253209: Puente et al. (2022) - AKU_DB_435a substitution ? - DNA SEQ exon
+/+ Parent #2 AKU_00025 05i c.342+1G>A r.(spl?) p.(Leu95_Ser114del) ivs5+1G>A rs397515518 aberrant splicing (DS)/exon skipping/in frame deletion? - Muller et al. (1999) c.342+1G AKU_DB_435b substitution - - DNA SEQ intron