LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000406)
Patient ID AKU_TR2_0247
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Jordan
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_00176
Exon 02i
DNA change c.87+8_88-31delCAAATA[753bp]TGGGAG
RNA change r.(?)
Protein p.(?)
Original description in2 del
Links -
Variant remarks deletion
Predicted Mutation Effect** -
Reference Ascher et al. (2019)
Mutation HOT-SPOT -
Allele code AKU_TR2_0247b
Type deletion
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_00176 02i c.87+8_88-31delCAAATA[753bp]TGGGAG r.(?) p.(?) in2 del - deletion - Ascher et al. (2019) - AKU_TR2_0247b deletion - - DNA SEQ intron
+/+ Parent #1 AKU_00176 02i c.87+8_88-31delCAAATA[753bp]TGGGAG r.(?) p.(?) in2 del - deletion - Ascher et al. (2019) - AKU_TR2_0247a deletion - - DNA SEQ intron