LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000410)
Patient ID AKU_TR2_0102
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Romania
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00180
Exon 08i
DNA change c.550-2A>G
RNA change r.(?)
Protein p.(Arg184Glyfs*12)
Original description ivs8-2A>G
Variant remarks aberrant splicing (AS)/exon skipping/frameshift?
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_TR2_0102a
Type substitution
Re-site ?
Frequency -
Template DNA
Technique SEQ
Location intron

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_00000 00 c.(?) r.(?) p.(?) unknown unknown - submitted - AKU_TR2_0102b unknown - - DNA SEQ unknown
+/+ Parent #1 AKU_00180 08i c.550-2A>G r.(?) p.(Arg184Glyfs*12) ivs8-2A>G aberrant splicing (AS)/exon skipping/frameshift? - submitted - AKU_TR2_0102a substitution ? - DNA SEQ intron