LOVD - Variant listings for HGD

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Patient data (#0000316)
Patient ID AKU_DB_143
Disease AKU
Reference Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Italy
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_00005
Exon 02
DNA change c.31_32delGGinsATT
RNA change r.(?)
Protein p.(Gly11Ilefs*3)
Original description G11fs (F10fs)
Variant remarks frameshift
Predicted Mutation Effect** -
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_143a
Type deletion/insertion
Re-site -
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_00005 02 c.31_32delGGinsATT r.(?) p.(Gly11Ilefs*3) G11fs (F10fs) frameshift - de Bernabe et al. (1998) CCC triplet AKU_DB_143b deletion/insertion - - DNA SEQ exon
+/+ Parent #1 AKU_00005 02 c.31_32delGGinsATT r.(?) p.(Gly11Ilefs*3) G11fs (F10fs) frameshift - de Bernabe et al. (1998) CCC triplet AKU_DB_143a deletion/insertion - - DNA SEQ exon