LOVD - Variant listings for HGD

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Patient data (#0000577)
Patient ID AKU_DB_320
Disease AKU
Reference submitted, Russia:Moscow
Remarks Compound heterozygous
# Reported 1
Geographic origin Russia
Patient/Affected_per_Family 2
Families Patients 1
Submitter Alexander Kuzin

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00090
Exon 12i
DNA change c.1007-2A>T
RNA change r.(spl?)
Protein p.(Arg336Serfs*5)
Original description ivs12-2A>T
Links rs1261269370
Variant remarks aberrant splicing (AS)/exon skipping/frameshift?
Predicted Mutation Effect** -
Reference Vilboux et al. (2009)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_320b
Type substitution
Re-site -
Frequency -
Template DNA
Technique SEQ
Location intron

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
Links 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_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R rs28941783 missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_320a substitution (-)BslI - DNA SEQ exon
+/+ Parent #2 AKU_00090 12i c.1007-2A>T r.(spl?) p.(Arg336Serfs*5) ivs12-2A>T rs1261269370 aberrant splicing (AS)/exon skipping/frameshift? - Vilboux et al. (2009) CCC triplet AKU_DB_320b substitution - - DNA SEQ intron