LOVD - Variant listings for HGD

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Patient data (#0000433)
Patient ID AKU_DB_239
Disease AKU
Reference submitted, Italy:Florence
Remarks Homozygot
# Reported 1
Geographic origin Iran
Patient/Affected_per_Family 1
Families Patients 1
Submitter Berardino Porfirio

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00204
Exon 13i14
DNA change c.1189-41_1248del
RNA change r.(?)
Protein p.(?)
Original description in13ex14 del
Variant remarks deletion
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_DB_239a
Type deletion
Re-site -
Frequency -
Template DNA
Technique SEQ
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
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_00204 13i14 c.1189-41_1248del r.(?) p.(?) in13ex14 del deletion - submitted - AKU_DB_239b deletion - - DNA SEQ intron/exon
+/? Parent #1 AKU_00204 13i14 c.1189-41_1248del r.(?) p.(?) in13ex14 del deletion - submitted - AKU_DB_239a deletion - - DNA SEQ intron/exon