LOVD - Variant listings for HGD

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Patient data (#0000333)
Patient ID AKU_DB_149
Disease AKU
Reference Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Slovakia
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_00098
Exon 13
DNA change c.1111dupC
RNA change r.(?)
Protein p.(His371Profs*4)
Original description H371fs (P370fs)
Variant remarks frameshift
Predicted Mutation Effect** -
Reference Muller et al. (1999)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_149b
Type insertion
Re-site (+)BsiYI;BslI
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_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_149a substitution (-)BslI - DNA SEQ exon
+/+ Parent #1 AKU_00098 13 c.1111dupC r.(?) p.(His371Profs*4) H371fs (P370fs) frameshift - Muller et al. (1999) CCC triplet AKU_DB_149b insertion (+)BsiYI;BslI - DNA SEQ exon