LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000355)
Patient ID AKU_DB_189
Disease AKU
Reference Nemethova et al. (2016), 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_00196
Exon 13
DNA change c.(1006+1_1007-1)_(1188+1_1189-1)del
RNA change r.(?)
Protein p.(?)
Original description ex13 del
Variant remarks deletion
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_DB_189b
Type deletion
Re-site -
Frequency -
Template DNA
Technique SEQ, MLPA
Location intron/exon

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_00156 10 c.752G>A r.(?) p.(Gly251Asp) G251D missense Protomer destabilisation Nemethova et al. (2016) CCC triplet AKU_DB_189a substitution (-)BsaJI, Cac8I - DNA SEQ exon
+/? Parent #2 AKU_00196 13 c.(1006+1_1007-1)_(1188+1_1189-1)del r.(?) p.(?) ex13 del deletion - submitted - AKU_DB_189b deletion - - DNA SEQ, MLPA intron/exon