LOVD - Variant listings for HGD

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Patient data (#0000472)
Patient ID AKU_DB_268
Disease AKU
Reference submitted, 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_00051
Exon 08
DNA change c.502G>A
RNA change r.(?)
Protein p.(Glu168Lys)
Original description E168K
Links rs375283568
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference Higashino et al. (1998)
Mutation HOT-SPOT CpG
Allele code AKU_DB_268a
Type substitution
Re-site -
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_00051 08 c.502G>A r.(?) p.(Glu168Lys) E168K rs375283568 missense Hexamer disruption Higashino et al. (1998) CpG AKU_DB_268a substitution - - DNA SEQ exon
+/+? Parent #1 AKU_00210 10 c.659G>T r.(?) p.(Gly220Val) G220V - missense ? submitted - AKU_DB_268b substitution - - DNA SEQ exon