LOVD - Variant listings for HGD

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Patient data (#0000235)
Patient ID AKU_VIL_89
Disease AKU
Reference Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin USA
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_00051
Exon 08
DNA change c.502G>A
RNA change r.(?)
Protein p.(Glu168Lys)
Original description E168K
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference Higashino et al. (1998)
Mutation HOT-SPOT CpG
Allele code AKU_VIL_89a
Type substitution
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 #1 AKU_00051 08 c.502G>A r.(?) p.(Glu168Lys) E168K missense Hexamer disruption Higashino et al. (1998) CpG AKU_VIL_89b substitution - - DNA SEQ exon
+/+? Parent #2 AKU_00051 08 c.502G>A r.(?) p.(Glu168Lys) E168K missense Hexamer disruption Higashino et al. (1998) CpG AKU_VIL_89a substitution - - DNA SEQ exon