LOVD - Variant listings for HGD

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Patient data (#0000392)
Patient ID AKU_DB_219
Disease AKU
Reference Usher et al. (2015), 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 Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00171
Exon 10
DNA change c.664_674dup11
RNA change r.(?)
Protein p.(Asp226Profs*7)
Original description D226fs
Links -
Variant remarks frameshift
Predicted Mutation Effect** -
Reference Usher et al. (2015)
Mutation HOT-SPOT -
Allele code AKU_DB_219b
Type insertion
Re-site (+)BsaJI, NmeAIII
Frequency -
Template DNA
Technique SEQ
Location exon

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_00190 09i c.649+39T>G r.(?) p.(?) ivs9+39T>G - polymorphism - Usher et al. (2015) - AKU_DB_219a substitution - - DNA SEQ intron
+/+? Parent #2 AKU_00171 10 c.664_674dup11 r.(?) p.(Asp226Profs*7) D226fs - frameshift - Usher et al. (2015) - AKU_DB_219b insertion (+)BsaJI, NmeAIII - DNA SEQ exon