LOVD - Variant listings for HGD

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Patient data (#0000479)
Patient ID AKU_DB_278
Disease AKU
Reference submitted, Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin France/Algeria
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00069
Exon 10
DNA change c.652delG
RNA change r.(?)
Protein p.(Ala218Profs*11)
Original description A218fs (G217fs)
Variant remarks frameshift
Predicted Mutation Effect** -
Reference Ladjouze-Rezig et al. (2006)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_278b
Type deletion
Re-site (-)NlaIV
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_00069 10 c.652delG r.(?) p.(Ala218Profs*11) A218fs (G217fs) frameshift - Ladjouze-Rezig et al. (2006) CCC triplet AKU_DB_278b deletion (-)NlaIV - DNA SEQ exon
+/+ Parent #1 AKU_00069 10 c.652delG r.(?) p.(Ala218Profs*11) A218fs (G217fs) frameshift - Ladjouze-Rezig et al. (2006) CCC triplet AKU_DB_278a deletion (-)NlaIV - DNA SEQ exon