LOVD - Variant listings for HGD

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Patient data (#0000430)
Patient ID AKU_TR2_0115
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Netherland
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_00071
Exon 10
DNA change c.674G>A
RNA change r.(?)
Protein p.(Arg225His)
Original description R225H
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT CpG
Allele code AKU_TR2_0115a
Type substitution
Re-site (+)NlaIII; (-)BssSI
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_00197 05_06 c.(282+1_283-1)_(434+1_435-1)del r.(?) p.(?) ex5,6 del deletion - submitted CpG AKU_TR2_0115b deletion - - DNA SEQ, MLPA exon
+/+ Parent #1 AKU_00071 10 c.674G>A r.(?) p.(Arg225His) R225H missense Hexamer disruption de Bernabe et al. (1998) CpG AKU_TR2_0115a substitution (+)NlaIII; (-)BssSI - DNA SEQ exon