LOVD - Variant listings for HGD

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Patient data (#0000428)
Patient ID AKU_DB_237
Disease AKU
Reference submitted, 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 #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00079
Exon 11
DNA change c.808G>A
RNA change r.(?)
Protein p.(Gly270Arg)
Original description G270R
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Muller et al. (1999)
Mutation HOT-SPOT CCC triplet, CpG
Allele code AKU_DB_237a
Type substitution
Re-site (+)EcoNI
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 #1 AKU_00042 07 c.457dupG r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_237a insertion - - DNA SEQ exon
+/+? Parent #2 AKU_00079 11 c.808G>A r.(?) p.(Gly270Arg) G270R missense Protomer destabilisation, Hexamer disruption Muller et al. (1999) CCC triplet, CpG AKU_DB_237a substitution (+)EcoNI - DNA SEQ exon