LOVD - Variant listings for HGD

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Patient data (#0000264)
Patient ID AKU_POL_26
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 #1
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
DB-ID AKU_00132
Exon 08
DNA change c.474G>T
RNA change r.(?)
Protein p.(Pro158Pro)
Original description P158P
Variant remarks polymorphism, Rs2293734
Predicted Mutation Effect** -
Reference Vilboux et al. (2009)
Mutation HOT-SPOT CpG
Allele code AKU_POL_26
Type substitution
Re-site (+)EcoNI, DdeI, MnlI; (-)AciI
Frequency -
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_00132 08 c.474G>T r.(?) p.(Pro158Pro) P158P polymorphism, Rs2293734 - Vilboux et al. (2009) CpG AKU_POL_26 substitution (+)EcoNI, DdeI, MnlI; (-)AciI - DNA SEQ exon