LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000224)
Patient ID AKU_VIL_70
Disease AKU
Reference Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin USA
Patient/Affected_per_Family 2
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00089
Exon 12i
DNA change c.1006+2T>A
RNA change r.(spl?)
Protein p.(Asp294Glyfs*4)
Original description ivs12+2T>A
Variant remarks aberrant splicing (DS)/exon skipping/frameshift?
Predicted Mutation Effect** -
Reference Vilboux et al. (2009)
Mutation HOT-SPOT -
Allele code AKU_VIL_70b
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_00013 03 c.175delA r.(?) p.(Ser59Alafs*52) S59fs (R58fs) frameshift - de Bernabe et al. (1999b) - AKU_VIL_70a deletion - - DNA SEQ exon
+/+ Parent #1 AKU_00089 12i c.1006+2T>A r.(spl?) p.(Asp294Glyfs*4) ivs12+2T>A aberrant splicing (DS)/exon skipping/frameshift? - Vilboux et al. (2009) - AKU_VIL_70b substitution - - DNA SEQ intron