LOVD - Variant listings for HGD

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Patient data (#0000423)
Patient ID AKU_TR_0332
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Mali
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00193
Exon 09i
DNA change c.650-13T>G
RNA change r.(?)
Protein p.(?)
Original description ivs9-13T>G
Variant remarks aberrant splicing (AS)/exon skipping, polymorphism?
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_TR2_0332b
Type substitution
Re-site -
Frequency -
Template -
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_00192 05i c.343-11G>A r.(?) p.(?) ivs5-11G>A aberrant splicing (AS)/exon skipping - submitted - AKU_TR2_0332a substitution - - - SEQ intron
+/+? Parent #1 AKU_00193 09i c.650-13T>G r.(?) p.(?) ivs9-13T>G aberrant splicing (AS)/exon skipping, polymorphism? - submitted - AKU_TR2_0332b substitution - - - SEQ intron