LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000352)
Patient ID AKU_DB_186
Disease AKU
Reference Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin India
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00159
Exon 07i
DNA change c.469+6T>C
RNA change r.(spl?)
Protein p.(Arg145Serfs*22)
Original description ivs7+6T>C
Variant remarks aberrant splicing (DS)/exon skipping, frameshift?
Predicted Mutation Effect** -
Reference Nemethova et al. (2016)
Mutation HOT-SPOT -
Allele code AKU_DB_186b
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_00159 07i c.469+6T>C r.(spl?) p.(Arg145Serfs*22) ivs7+6T>C aberrant splicing (DS)/exon skipping, frameshift? - Nemethova et al. (2016) - AKU_DB_186b substitution - - DNA SEQ intron
+/+ Parent #1 AKU_00159 07i c.469+6T>C r.(spl?) p.(Arg145Serfs*22) ivs7+6T>C aberrant splicing (DS)/exon skipping, frameshift? - Nemethova et al. (2016) - AKU_DB_186a substitution - - DNA SEQ intron