LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000393)
Patient ID AKU_DB_220
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_00172
Exon 10
DNA change c.733G>T
RNA change r.(?)
Protein p.(Val245Phe)
Original description V245F
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Usher et al. (2015)
Mutation HOT-SPOT -
Allele code AKU_DB_220b
Type substitution
Re-site (+)AflIII, HpyCH4IV;(-)HpyCH4III
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 #1 AKU_00167 02 c.37G>A r.(?) p.(Glu13Lys) E13K missense Hexamer disruption Usher et al. (2015) - AKU_DB_220a substitution - - DNA SEQ exon
+/+? Parent #2 AKU_00172 10 c.733G>T r.(?) p.(Val245Phe) V245F missense Protomer destabilisation Usher et al. (2015) - AKU_DB_220b substitution (+)AflIII, HpyCH4IV;(-)HpyCH4III - DNA SEQ exon