LOVD - Variant listings for HGD

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Patient data (#0000418)
Patient ID AKU_TR2_0324
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Belgium
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_00188
Exon 10i
DNA change c.774+1G>T
RNA change r.(?)
Protein p.(Ala218Cysfs*32)
Original description ivs10+1G>T
Variant remarks aberrant splicing (DS)/exon skipping/frameshift?
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_TR2_0324a
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 #1 AKU_00188 10i c.774+1G>T r.(?) p.(Ala218Cysfs*32) ivs10+1G>T aberrant splicing (DS)/exon skipping/frameshift? - submitted - AKU_TR2_0324a substitution ? - DNA SEQ intron
+/+ Parent #2 AKU_00184 12 c.995C>G r.(?) p.(Pro332Arg) P332R missense - submitted - AKU_TR2_0324b substitution ? - DNA SEQ exon