LOVD - Variant listings for HGD

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Patient data (#0000211)
Patient ID AKU_VIL_59
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_00092
Exon 13
DNA change c.1017_1019delGAGinsTA
RNA change r.(?)
Protein p.(Met339Ilefs*30)
Original description M339fs
Variant remarks frameshift
Predicted Mutation Effect** -
Reference Vilboux et al. (2009)
Mutation HOT-SPOT -
Allele code AKU_VIL_59a
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
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_00092 13 c.1017_1019delGAGinsTA r.(?) p.(Met339Ilefs*30) M339fs frameshift - Vilboux et al. (2009) - AKU_VIL_59a substitution - - DNA SEQ exon
+/+? Parent #1 AKU_00100 13 c.1118C>T r.(?) p.(Pro373Leu) P373L missense Active site disruption Vilboux et al. (2009) - AKU_VIL_59b substitution (-)Sau96I, AvaII - DNA SEQ exon