LOVD - Variant listings for HGD

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Patient data (#0000238)
Patient ID AKU_VIL_93
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 Probably pathogenic
DB-ID AKU_00001
Exon 01
DNA change c.8A>C
RNA change r.(?)
Protein p.(Glu3Ala)
Original description E3A
Variant remarks missense
Predicted Mutation Effect** unknown
Reference Vilboux et al. (2009)
Mutation HOT-SPOT -
Allele code AKU_VIL_93a
Type substitution
Re-site -
Frequency -
Template DNA
Technique SEQ
Location exon

3 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_00001 01 c.8A>C r.(?) p.(Glu3Ala) E3A missense unknown Vilboux et al. (2009) - AKU_VIL_93a substitution - - DNA SEQ exon
+/+? Parent #2 AKU_00077 10 c.773A>C r.(?) p.(Gln258Pro) Q258P missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_VIL_93b substitution (+)MspI, HpaII, BsaWI - DNA SEQ exon
+/+? Parent #1 AKU_00084 12 c.914C>T r.(?) p.(Ser305Phe) S305F missense Protomer destabilisation, Hexamer disruption Phornphutkul et al. (2002) - AKU_VIL_93c substitution (-)DrdI - DNA SEQ exon