LOVD - Variant listings for HGD

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Patient data (#0000477)
Patient ID AKU_DB_279
Disease AKU
Reference Cho a Kim 2018, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Korea
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00166
Exon 05i
DNA change c.342+3A>C
RNA change r.(spl?)
Protein p.(Leu95_Ser114del)
Original description ivs5+3A>C
Variant remarks aberrant splicing (DS)/exon skipping/in frame deletion
Predicted Mutation Effect** -
Reference Li et al. (2014)
Mutation HOT-SPOT -
Allele code AKU_DB_279a
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
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_00166 05i c.342+3A>C r.(spl?) p.(Leu95_Ser114del) ivs5+3A>C aberrant splicing (DS)/exon skipping/in frame deletion - Li et al. (2014) - AKU_DB_279a substitution ? - DNA SEQ exon
+/+ Parent #1 AKU_00212 12i c.1006+6T>C r.(?) p.(?) ivs12+6T>C aberrant splicing (DS)/exon skipping/frameshift - Cho a Kim 2018 - AKU_DB_279b substitution - - DNA SEQ intron