LOVD - Variant listings for HGD

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Patient data (#0000278)
Patient ID AKU_POL_7
Disease -
Reference de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava
Remarks -
# Reported 1
Geographic origin -
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Probably no pathogenicity
DB-ID AKU_00113
Exon 04
DNA change c.240A>T
RNA change r.(?)
Protein p.(His80Gln)
Original description H80Q
Variant remarks polymorphism, Rs2255543
Predicted Mutation Effect** -
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT -
Allele code AKU_POL_7
Type substitution
Re-site (+)NlaIII
Frequency 0,22(A)
Template DNA
Technique SEQ
Location exon

1 entry 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_00113 04 c.240A>T r.(?) p.(His80Gln) H80Q polymorphism, Rs2255543 - de Bernabe et al. (1998) - AKU_POL_7 substitution (+)NlaIII 0,22(A) DNA SEQ exon