LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000423)
Patient ID AKU_TR_0332
Disease AKU
Reference Ascher et al. (2019), 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_00192
Exon 05i
DNA change c.343-11G>A
RNA change r.(?)
Protein p.(?)
Original description ivs5-11G>A
Variant remarks polymorphism
Predicted Mutation Effect** -
Reference Ascher et al. (2019)
Mutation HOT-SPOT -
Allele code AKU_TR2_0332c
Type substitution
Re-site -
Frequency -
Template DNA/RNA
Technique SEQ
Location intron

4 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_00192 05i c.343-11G>A r.(?) p.(?) ivs5-11G>A polymorphism - Ascher et al. (2019) - AKU_TR2_0332d substitution - - DNA/RNA SEQ intron
+/+? Parent #1 AKU_00192 05i c.343-11G>A r.(?) p.(?) ivs5-11G>A polymorphism - Ascher et al. (2019) - AKU_TR2_0332c substitution - - DNA/RNA SEQ intron
+/+? Parent #2 AKU_00193 09i c.650-13T>G r.(?) p.(?) ivs9-13T>G aberrant splicing (AS)/exon skipping/cryptic splice site - Ascher et al. (2019) - AKU_TR2_0332b substitution - - DNA/RNA SEQ intron
+/+? Parent #1 AKU_00193 09i c.650-13T>G r.(?) p.(?) ivs9-13T>G aberrant splicing (AS)/exon skipping/cryptic splice site - Ascher et al. (2019) - AKU_TR2_0332a substitution - - DNA/RNA SEQ intron