LOVD - Variant listings for HGD

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Patient data (#0000450)
Patient ID AKU_DB_251
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 2
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00042
Exon 07
DNA change c.457dupG
RNA change r.(?)
Protein p.(Asp153Glyfs*26)
Original description D153fs (G152fs)
Links rs397515346
Variant remarks frameshift
Predicted Mutation Effect** -
Reference Gehrig et al. (1997)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_251b
Type 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
Links 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_00042 07 c.457dupG r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_251b insertion - - DNA SEQ exon
+/+? Parent #1 AKU_00102 14 c.1201G>C r.(?) p.(Glu401Gln) E401Q rs767159114 missense Active site disruption, Hexamer disruption Mannoni et al. (2004) - AKU_DB_251a substitution (-)TfiI ? - DNA SEQ exon