LOVD - Variant listings for HGD

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Patient data (#0000329)
Patient ID AKU_DB_170
Disease AKU
Reference Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Italy
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_00044
Exon 07i
DNA change c.469+2T>C
RNA change r.(spl?)
Protein p.(Arg145Serfs*22)
Original description ivs7+2T>C
Variant remarks aberrant splicing (DS)/exon skipping/frameshift?
Predicted Mutation Effect** -
Reference Phornphutkul et al. (2002)
Mutation HOT-SPOT -
Allele code AKU_DB_170a
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
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_00044 07i c.469+2T>C r.(spl?) p.(Arg145Serfs*22) ivs7+2T>C aberrant splicing (DS)/exon skipping/frameshift? - Phornphutkul et al. (2002) - AKU_DB_170a substitution - - DNA SEQ intron
+/? Parent #2 AKU_00196 13 c.(1006+1_1007-1)_(1188+1_1189-1)del r.(?) p.(?) ex13 del deletion - submitted - AKU_DB_170a deletion - - DNA SEQ, MLPA intron/exon