LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000434)
Patient ID AKU_DB_240
Disease AKU
Reference Ascher et al. (2019), Italy:Roma
Remarks Homozygot
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Gianfranco Biolcati

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00164
Exon 02
DNA change c.16-272_87+305del
RNA change r.(?)
Protein p.(Tyr6_Gln29del)
Original description ex2 del
Links -
Variant remarks deletion
Predicted Mutation Effect** -
Reference Habbal et al. (2014)
Mutation HOT-SPOT -
Allele code AKU_DB_240a
Type deletion
Re-site -
Frequency -
Template DNA
Technique SEQ, MLPA
Location intron/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 #2 AKU_00164 02 c.16-272_87+305del r.(?) p.(Tyr6_Gln29del) ex2 del - deletion - Habbal et al. (2014) - AKU_DB_240b deletion - - DNA SEQ, MLPA intron/exon
+/? Parent #1 AKU_00164 02 c.16-272_87+305del r.(?) p.(Tyr6_Gln29del) ex2 del - deletion - Habbal et al. (2014) - AKU_DB_240a deletion - - DNA SEQ, MLPA intron/exon