LOVD - Variant listings for HGD

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Patient data (#0000443)
Patient ID AKU_DB_246
Disease AKU
Reference submitted, 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 #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00167
Exon 02
DNA change c.37G>A
RNA change r.(?)
Protein p.(Glu13Lys)
Original description E13K
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference Usher et al. (2015)
Mutation HOT-SPOT -
Allele code AKU_DB_246b
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 #2 AKU_00167 02 c.37G>A r.(?) p.(Glu13Lys) E13K missense Hexamer disruption Usher et al. (2015) - AKU_DB_246b substitution - - DNA SEQ exon
-?/? Parent #1 AKU_00067 09i c.650-56G>A r.(spl?) p.(?) ivs9-56G>A aberrant splicing (AS)/exon skipping - de Bernabe et al. (1998) CCC triplet AKU_DB_246a substitution - - DNA SEQ intron