LOVD - Variant listings for HGD

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Patient data (#0000330)
Patient ID AKU_DB_167
Disease AKU
Reference Nemethova et al. (2016), Italy:Roma
Remarks Compound heterozygous
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Gianfranco Biolcati

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00009
Exon 03
DNA change c.130C>T
RNA change r.(?)
Protein p.(Leu44Phe)
Original description L44F
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Zatkova et al. (2012)
Mutation HOT-SPOT -
Allele code AKU_DB_167a
Type substitution
Re-site (-)AluI
Frequency -
Template DNA
Technique SEQ
Location exon

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_00009 03 c.130C>T r.(?) p.(Leu44Phe) L44F missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_167a substitution (-)AluI - DNA SEQ exon
+/+ Parent #1 AKU_00139 12 c.970dupG r.(?) p.(Val324Glyfs*3) V324fs frameshift/polymorphism?, Rs34214309 - Vilboux et al. (2009) CCC triplet AKU_DB_167b insertion - - DNA SEQ exon