LOVD - Variant listings for HGD

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Patient data (#0000367)
Patient ID AKU_DB_183
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_00013
Exon 03
DNA change c.175delA
RNA change r.(?)
Protein p.(Ser59Alafs*52)
Original description S59fs (R58fs)
Variant remarks frameshift
Predicted Mutation Effect** -
Reference de Bernabe et al. (1999b)
Mutation HOT-SPOT -
Allele code AKU_DB_183b
Type deletion
Re-site -
Frequency -
Template DNA
Technique SEQ
Location exon

4 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_DB_183b deletion - - DNA SEQ exon
+/+ Parent #1 AKU_00013 03 c.175delA r.(?) p.(Ser59Alafs*52) S59fs (R58fs) frameshift - de Bernabe et al. (1999b) - AKU_DB_183a deletion - - DNA SEQ exon
+/+? Parent #2 AKU_00162 09i c.650-85A>G r.(spl?) p.(?) ivs9-85A>G aberrant splicing (AS)/exon skipping, polymorphism? - Nemethova et al. (2016) - AKU_DB_183d substitution - - DNA SEQ intron
+/+? Parent #1 AKU_00162 09i c.650-85A>G r.(spl?) p.(?) ivs9-85A>G aberrant splicing (AS)/exon skipping, polymorphism? - Nemethova et al. (2016) - AKU_DB_183c substitution - - DNA SEQ intron