LOVD - Variant listings for HGD

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Patient data (#0000733)
Patient ID AKU_DB_433
Disease AKU
Reference submitted, Dr. Pelin Teke Kisa, Turkey:Izmir
Remarks Homozygot
# Reported 1
Geographic origin Turkey
Patient/Affected_per_Family 1
Families Patients 1
Submitter Pelin Teke Kisa

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00258
Exon 13
DNA change c.1060C>T
RNA change r.(?)
Protein p.(Gln354*)
Original description Q97*
Links rs780333531
Variant remarks nonsense
Predicted Mutation Effect** -
Reference submitted, Dr. Pelin Teke Kisa
Mutation HOT-SPOT -
Allele code AKU_DB_433a
Type substitution
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
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 #1 AKU_00258 13 c.1060C>T r.(?) p.(Gln354*) Q97* rs780333531 nonsense - submitted, Dr. Pelin Teke Kisa - AKU_DB_433a substitution ? - DNA SEQ exon
+/+ Parent #1 AKU_00258 13 c.1060C>T r.(?) p.(Gln354*) Q97* rs780333531 nonsense - submitted, Dr. Pelin Teke Kisa - AKU_DB_433b substitution ? - DNA SEQ exon