LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000571)
Patient ID AKU_DB_314
Disease AKU
Reference submitted, Russia:Moscow
Remarks Compound heterozygous
# Reported 1
Geographic origin Russia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Alexander Kuzin

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00228
Exon 13i
DNA change c.1188+8T>A
RNA change r.(?)
Protein p.(?)
Original description ivs13+8T>A
Links -
Variant remarks aberrant splicing (AS)/exon skipping
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_DB_314b
Type substitution
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_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R rs28941783 missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_314a substitution (-)BslI - DNA SEQ exon
+/? Parent #2 AKU_00228 13i c.1188+8T>A r.(?) p.(?) ivs13+8T>A - aberrant splicing (AS)/exon skipping - submitted - AKU_DB_314b substitution ? - DNA SEQ exon