LOVD - Variant listings for HGD

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Patient data (#0000475)
Patient ID AKU_DB_276
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00211
Exon 09i
DNA change c.649+2T>C
RNA change r.(?)
Protein p.(?)
Original description ivs9+2T>C
Links -
Variant remarks aberrant splicing (DS)/exon skipping/frameshift
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_DB_276a
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 #2 AKU_00211 09i c.649+2T>C r.(?) p.(?) ivs9+2T>C - aberrant splicing (DS)/exon skipping/frameshift - submitted - AKU_DB_276b substitution - - DNA SEQ intron
+/+ Parent #1 AKU_00211 09i c.649+2T>C r.(?) p.(?) ivs9+2T>C - aberrant splicing (DS)/exon skipping/frameshift - submitted - AKU_DB_276a substitution - - DNA SEQ intron