LOVD - Variant listings for HGD

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Patient data (#0000412)
Patient ID AKU_TR2_0301
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Algeria
Patient/Affected_per_Family 4
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00182
Exon 02
DNA change c.85delC
RNA change r.(?)
Protein p.(Gln29Argfs*82)
Original description Q29fs
Variant remarks frameshift
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_TR2_0301a
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_00182 02 c.85delC r.(?) p.(Gln29Argfs*82) Q29fs frameshift - submitted - AKU_TR2_0301a deletion ? - DNA SEQ exon
+/+ Parent #2 AKU_00182 02 c.85delC r.(?) p.(Gln29Argfs*82) Q29fs frameshift - submitted - AKU_TR2_0301a deletion ? - DNA SEQ exon