LOVD - Variant listings for HGD

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Patient data (#0000273)
Patient ID AKU_POL_34
Disease -
Reference Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks -
# Reported 1
Geographic origin -
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_00140
Exon 13
DNA change c.1008dupG
RNA change r.(?)
Protein p.(Asn337Glufs*5)
Original description N337fs
Variant remarks frameshift/polymorphism?, Rs35952153
Predicted Mutation Effect** -
Reference Vilboux et al. (2009)
Mutation HOT-SPOT CCC triplet
Allele code AKU_POL_34?
Type insertion
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
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_00140 13 c.1008dupG r.(?) p.(Asn337Glufs*5) N337fs frameshift/polymorphism?, Rs35952153 - Vilboux et al. (2009) CCC triplet AKU_POL_34? insertion - - DNA SEQ exon