LOVD - Variant listings for HGD

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Patient data (#0000141)
Patient ID AKU_PHO_3
Disease AKU
Reference Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava
Remarks ?
# Reported 1
Geographic origin USA
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00014
Exon 03
DNA change c.(?)
RNA change r.(?)
Protein p.(Ser59*)
Original description S59*
Links -
Variant remarks nonsense
Predicted Mutation Effect** -
Reference Phornphutkul et al. (2002)
Mutation HOT-SPOT -
Allele code AKU_PHO_3
Type substitution
Re-site -
Frequency -
Template DNA
Technique SEQ
Location exon

1 entry 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
Links 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_00014 03 c.(?) r.(?) p.(Ser59*) S59* - nonsense - Phornphutkul et al. (2002) - AKU_PHO_3 substitution - - DNA SEQ exon