LOVD - Variant listings for HGD

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Patient data (#0000439)
Patient ID AKU_DB_243
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# 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_00072
Exon 10
DNA change c.674G>T
RNA change r.(?)
Protein p.(Arg225Leu)
Original description R225L
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference Ascher et al. (2019)
Mutation HOT-SPOT CpG
Allele code AKU_DB_243a
Type substitution
Re-site (-)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 #1 AKU_00072 10 c.674G>T r.(?) p.(Arg225Leu) R225L missense Hexamer disruption Ascher et al. (2019) CpG AKU_DB_243a substitution (-)BssSI - DNA SEQ exon
+/+ Parent #2 AKU_00201 13 c.1049A>G r.(?) p.(Tyr350Cys) Y350C missense - Ascher et al. (2019) - AKU_DB_243b substitution ? - DNA SEQ exon