LOVD - Variant listings for HGD

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Patient data (#0000618)
Patient ID AKU_DB_361
Disease AKU
Reference Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Turkey
Patient/Affected_per_Family 2
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00070
Exon 10
DNA change c.656A>G
RNA change r.(?)
Protein p.(Asn219Ser)
Original description N219S
Links -
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference Zatkova et al. (2012)
Mutation HOT-SPOT -
Allele code AKU_DB_361b
Type substitution
Re-site (+)BsrI, TspRI
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 #1 AKU_00070 10 c.656A>G r.(?) p.(Asn219Ser) N219S - missense Hexamer disruption Zatkova et al. (2012) - AKU_DB_361a substitution (+)BsrI, TspRI - DNA SEQ exon
+/+? Parent #2 AKU_00070 10 c.656A>G r.(?) p.(Asn219Ser) N219S - missense Hexamer disruption Zatkova et al. (2012) - AKU_DB_361b substitution (+)BsrI, TspRI - DNA SEQ exon