LOVD - Variant listings for HGD

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Patient data (#0000478)
Patient ID AKU_DB_280
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Italy
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_00152
Exon 03
DNA change c.158G>A
RNA change r.(?)
Protein p.(Arg53Gln)
Original description R53Q
Links rs200808744
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference Nemethova et al. (2016); Usher et al. (2015)
Mutation HOT-SPOT CpG
Allele code AKU_DB_280b
Type substitution
Re-site (-)BsaJI, BtgI
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_00152 03 c.158G>A r.(?) p.(Arg53Gln) R53Q rs200808744 missense Hexamer disruption Nemethova et al. (2016); Usher et al. (2015) CpG AKU_DB_280b substitution (-)BsaJI, BtgI - DNA SEQ exon
+/+? Parent #1 AKU_00152 03 c.158G>A r.(?) p.(Arg53Gln) R53Q rs200808744 missense Hexamer disruption Nemethova et al. (2016); Usher et al. (2015) CpG AKU_DB_280a substitution (-)BsaJI, BtgI - DNA SEQ exon