LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000337)
Patient ID AKU_DB_164
Disease AKU
Reference Nemethova et al. (2016), Italy:Roma
Remarks Homozygot
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 2
Families Patients 1
Submitter Gianfranco Biolcati

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00045
Exon 07i
DNA change c.469+5G>A
RNA change r.(spl?)
Protein p.(Arg145Serfs*22)
Original description ivs7+5G>A
Variant remarks aberrant splicing (DS)/exon skipping/frameshift?
Predicted Mutation Effect** -
Reference Porfirio et al. (2000)
Mutation HOT-SPOT -
Allele code AKU_DB_164a
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 #2 AKU_00045 07i c.469+5G>A r.(spl?) p.(Arg145Serfs*22) ivs7+5G>A aberrant splicing (DS)/exon skipping/frameshift? - Porfirio et al. (2000) - AKU_DB_164b substitution - - DNA SEQ intron
+/+ Parent #1 AKU_00045 07i c.469+5G>A r.(spl?) p.(Arg145Serfs*22) ivs7+5G>A aberrant splicing (DS)/exon skipping/frameshift? - Porfirio et al. (2000) - AKU_DB_164a substitution - - DNA SEQ intron