LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000291)
Patient ID AKU_DB_122
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 #2
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
DB-ID AKU_00189
Exon 09i
DNA change c.649+31G>A
RNA change r.(?)
Protein p.(?)
Original description ivs9+31G>A
Variant remarks polymorphism
Predicted Mutation Effect** -
Reference Usher et al. (2015)
Mutation HOT-SPOT -
Allele code AKU_DB_122c
Type substitution
Re-site -
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 #1 AKU_00044 07i c.469+2T>C r.(spl?) p.(Arg145Serfs*22) ivs7+2T>C aberrant splicing (DS)/exon skipping/frameshift? - Phornphutkul et al. (2002) - AKU_DB_122a substitution - - DNA SEQ intron
-?/? Parent #2 AKU_00144 08 c.507T>G r.(?) p.(Phe169Leu) F169L missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_122b substitution - - DNA SEQ exon
-?/? Parent #2 AKU_00189 09i c.649+31G>A r.(?) p.(?) ivs9+31G>A polymorphism - Usher et al. (2015) - AKU_DB_122c substitution - - DNA SEQ intron