LOVD - Variant listings for HGD

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Patient data (#0000302)
Patient ID AKU_DB_132
Disease AKU
Reference Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool
Remarks Compound heterozygous
# Reported 1
Geographic origin United Kingdom
Patient/Affected_per_Family 1
Families Patients 1
Submitter Jeannette Usher

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00000
Exon 00
DNA change c.(?)
RNA change r.(?)
Protein p.(?)
Original description unknown
Links -
Variant remarks unknown
Predicted Mutation Effect** -
Reference Zatkova et al. (2012)
Mutation HOT-SPOT -
Allele code AKU_DB_132b
Type unknown
Re-site -
Frequency -
Template DNA
Technique SEQ
Location unknown

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_00000 00 c.(?) r.(?) p.(?) unknown - unknown - Zatkova et al. (2012) - AKU_DB_132b unknown - - DNA SEQ unknown
+/+? Parent #2 AKU_00032 06 c.367G>A r.(?) p.(Gly123Arg) G123R rs564979861 missense Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) - AKU_DB_132a substitution (-)BpmI - DNA SEQ exon