LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000613)
Patient ID AKU_DB_356
Disease AKU
Reference Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Turkey
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00203
Exon 10
DNA change c.656_657insAATCAA
RNA change r.(?)
Protein p.(Ala218_Asn219insLysIle)
Original description A218_N219insKI
Links -
Variant remarks insertion inframe
Predicted Mutation Effect** -
Reference Ascher et al. (2019)
Mutation HOT-SPOT -
Allele code AKU_DB_356b
Type insertion
Re-site -
Frequency -
Template DNA
Technique SEQ
Location 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
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 #1 AKU_00203 10 c.656_657insAATCAA r.(?) p.(Ala218_Asn219insLysIle) A218_N219insKI - insertion inframe - Ascher et al. (2019) - AKU_DB_356a insertion - - DNA SEQ exon
+/+? Parent #2 AKU_00203 10 c.656_657insAATCAA r.(?) p.(Ala218_Asn219insLysIle) A218_N219insKI - insertion inframe - Ascher et al. (2019) - AKU_DB_356b insertion - - DNA SEQ exon