LOVD - Variant listings for HGD

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Patient data (#0000205)
Patient ID AKU_VIL_52
Disease AKU
Reference Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin USA
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00000
Exon 00
DNA change c.(?)
RNA change r.(?)
Protein p.(?)
Original description unknown
Variant remarks unknown
Predicted Mutation Effect** -
Reference Vilboux et al. (2009)
Mutation HOT-SPOT -
Allele code AKU_VIL_52b
Type unknown
Re-site -
Frequency -
Template DNA
Technique SEQ
Location unknown

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_00000 00 c.(?) r.(?) p.(?) unknown unknown - Vilboux et al. (2009) - AKU_VIL_52b unknown - - DNA SEQ unknown
+/+ Parent #1 AKU_00016 04 c.178T>G r.(?) p.(Trp60Gly) W60G missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1999a) - AKU_VIL_52a substitution (+)FauI, AciI; (-)AluI - DNA SEQ exon