LOVD - Variant listings for HGD

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Patient data (#0000429)
Patient ID AKU_TR2_0318
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin France
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00155
Exon 07
DNA change c.440T>C
RNA change r.(?)
Protein p.(Phe147Ser)
Original description F147S
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Nemethova et al. (2016)
Mutation HOT-SPOT -
Allele code AKU_TR2_0318b
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_00155 07 c.440T>C r.(?) p.(Phe147Ser) F147S missense Protomer destabilisation Nemethova et al. (2016) - AKU_TR2_0318b substitution - - DNA SEQ exon
+/+ Parent #1 AKU_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR2_0318a substitution (-)BslI - DNA SEQ exon