LOVD - Variant listings for HGD

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Patient data (#0000207)
Patient ID AKU_VIL_54
Disease AKU
Reference Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin USA
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_00097
Exon 13
DNA change c.1102A>G
RNA change r.(?)
Protein p.(Met368Val)
Original description M368V
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT -
Allele code AKU_VIL_54b
Type substitution
Re-site (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI
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 #1 AKU_00024 05i c.342+1G>T r.(spl?) p.(Leu95_Ser114del) ivs5+1G>T aberrant splicing (DS)/exon skipping/in frame deletion? - de Bernabe et al. (1998) c.342+1G AKU_VIL_54a substitution - - DNA SEQ intron
+/+ Parent #2 AKU_00097 13 c.1102A>G r.(?) p.(Met368Val) M368V missense Hexamer disruption de Bernabe et al. (1998) - AKU_VIL_54b substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon