LOVD - Variant listings for HGD

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Patient data (#0000340)
Patient ID AKU_DB_171
Disease AKU
Reference Nemethova et al. (2016), Italy:Florence
Remarks Homozygot
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Berardino Porfirio

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00073
Exon 10
DNA change c.680T>C
RNA change r.(?)
Protein p.(Phe227Ser)
Original description F227S
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT -
Allele code AKU_DB_171b
Type substitution
Re-site (+)TfiI, HinfI
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_00073 10 c.680T>C r.(?) p.(Phe227Ser) F227S missense Protomer destabilisation de Bernabe et al. (1998) - AKU_DB_171b substitution (+)TfiI, HinfI - DNA SEQ exon
+/+ Parent #1 AKU_00073 10 c.680T>C r.(?) p.(Phe227Ser) F227S missense Protomer destabilisation de Bernabe et al. (1998) - AKU_DB_171a substitution (+)TfiI, HinfI - DNA SEQ exon