LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000482)
Patient ID AKU_TR2_0119
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00213
Exon 11
DNA change c.775-1915_879+1293del
RNA change r.(?)
Protein p.(Val260_Asp294del)
Original description ex11 del
Variant remarks deletion
Predicted Mutation Effect** -
Reference Ascher et al. (2019)
Mutation HOT-SPOT -
Allele code AKU_TR2_0119c
Type deletion
Re-site -
Frequency -
Template DNA
Technique SEQ, MLPA
Location intron/exon

3 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_00004 01i c.16-1G>A r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_TR2_0119a substitution (-)RsaI - DNA SEQ intron
+/+ Parent #1 AKU_00004 01i c.16-1G>A r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_TR2_0119b substitution (-)RsaI - DNA SEQ intron
+/? Parent #2 AKU_00213 11 c.775-1915_879+1293del r.(?) p.(Val260_Asp294del) ex11 del deletion - Ascher et al. (2019) - AKU_TR2_0119c deletion - - DNA SEQ, MLPA intron/exon