LOVD - Variant listings for HGD

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Patient data (#0000240)
Patient ID AKU_VIL_94
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_00004
Exon 01i
DNA change c.16-1G>A
RNA change r.(spl?)
Protein p.(Tyr6_Gln29del)
Original description ivs1-1G>A
Variant remarks aberrant splicing (AS)/exon skipping/in frame deletion?
Predicted Mutation Effect** -
Reference Muller et al. (1999)
Mutation HOT-SPOT -
Allele code AKU_VIL_94a
Type substitution
Re-site (-)RsaI
Frequency -
Template DNA
Technique SEQ
Location intron

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_00004 01i c.16-1G>A r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_VIL_94a substitution (-)RsaI - DNA SEQ intron
+/+ Parent #1 AKU_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_94b substitution (-)BslI - DNA SEQ exon
+/+ Parent #1 AKU_00092 13 c.1017_1019delGAGinsTA r.(?) p.(Met339Ilefs*30) M339fs frameshift - Vilboux et al. (2009) - AKU_VIL_94c substitution - - DNA SEQ exon