LOVD - Variant listings for HGD

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Patient data (#0000323)
Patient ID AKU_DB_154
Disease AKU
Reference Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin India
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_00150
Exon 02i
DNA change c.87+1G>A
RNA change r.(spl?)
Protein p.(Tyr6_Gln29del)
Original description ivs2+1G>A
Variant remarks aberrant splicing (DS)/exon skipping/in frame deletion?
Predicted Mutation Effect** -
Reference Sakthivel et al. (2014)
Mutation HOT-SPOT -
Allele code AKU_DB_154a
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_00150 02i c.87+1G>A r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_154a substitution - - DNA SEQ intron
+/+ Parent #2 AKU_00150 02i c.87+1G>A r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_154b substitution - - DNA SEQ intron