LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000707)
Patient ID AKU_DB_407
Disease AKU
Reference Bychkov et al. (2021), Russia:Moscow
Remarks Compound heterozygous
# Reported 1
Geographic origin Russia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Igor Bychkov

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00000
Exon 00
DNA change c.(?)
RNA change r.(?)
Protein p.(?)
Original description unknown
Links -
Variant remarks unknown
Predicted Mutation Effect** -
Reference Bychkov et al. (2021)
Mutation HOT-SPOT -
Allele code AKU_DB_407b
Type unknown
Re-site -
Frequency -
Template DNA
Technique SEQ
Location unknown

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_00000 00 c.(?) r.(?) p.(?) unknown - unknown - Bychkov et al. (2021) - AKU_DB_407b unknown - - DNA SEQ unknown
+/+? Parent #1 AKU_00255 i9 c.649+1G>A r.(?) p.(Arg184Glyfs*12)? ivs9+1G>A - aberrant splicing (DS)/exon skipping - Bychkov et al. (2021) - AKU_DB_407a substitution - - DNA SEQ intron