LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000339)
Patient ID AKU_DB_166
Disease AKU
Reference Nemethova et al. (2016), Italy:Roma
Remarks Homozygot
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Gianfranco Biolcati

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00013
Exon 03
DNA change c.175delA
RNA change r.(?)
Protein p.(Ser59Alafs*52)
Original description S59fs (R58fs)
Variant remarks frameshift
Predicted Mutation Effect** -
Reference de Bernabe et al. (1999b)
Mutation HOT-SPOT -
Allele code AKU_DB_166b
Type deletion
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 #1 AKU_00013 03 c.175delA r.(?) p.(Ser59Alafs*52) S59fs (R58fs) frameshift - de Bernabe et al. (1999b) - AKU_DB_166a deletion - - DNA SEQ exon
+/+ Parent #2 AKU_00013 03 c.175delA r.(?) p.(Ser59Alafs*52) S59fs (R58fs) frameshift - de Bernabe et al. (1999b) - AKU_DB_166b deletion - - DNA SEQ exon