LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000397)
Patient ID AKU_DB_224
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 #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00173
Exon 13
DNA change c.1009A>G
RNA change r.(?)
Protein p.(Asn337Asp)
Original description N337D
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Usher et al. (2015)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_224a
Type substitution
Re-site (+)BsmFI
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
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_00173 13 c.1009A>G r.(?) p.(Asn337Asp) N337D missense Protomer destabilisation, Hexamer disruption Usher et al. (2015) CCC triplet AKU_DB_224b substitution (+)BsmFI - DNA SEQ exon
+/+? Parent #1 AKU_00173 13 c.1009A>G r.(?) p.(Asn337Asp) N337D missense Protomer destabilisation, Hexamer disruption Usher et al. (2015) CCC triplet AKU_DB_224a substitution (+)BsmFI - DNA SEQ exon