LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000259)
Patient ID AKU_POL_21
Disease -
Reference Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks -
# Reported 1
Geographic origin -
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
DB-ID AKU_00127
Exon 02i
DNA change c.87+118A>G
RNA change r.(?)
Protein p.(?)
Original description ivs2+118A>G
Variant remarks polymorphism, Rs17140396
Predicted Mutation Effect** -
Reference Vilboux et al. (2009)
Mutation HOT-SPOT -
Allele code AKU_POL_21
Type substitution
Re-site -
Frequency 0,076(G)
Template DNA
Technique SEQ
Location intron

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 #2 AKU_00127 02i c.87+118A>G r.(?) p.(?) ivs2+118A>G polymorphism, Rs17140396 - Vilboux et al. (2009) - AKU_POL_21 substitution - 0,076(G) DNA SEQ intron