LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000389)
Patient ID AKU_DB_216
Disease AKU
Reference Usher et al. (2015), United Kingdom (Great Britain):Liverpool
Remarks Homozygot
# Reported 1
Geographic origin United Kingdom
Patient/Affected_per_Family 2
Families Patients 1
Submitter Jeannette Usher

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00170
Exon 10
DNA change c.674G>C
RNA change r.(?)
Protein p.(Arg225Pro)
Original description R225P
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference Usher et al. (2015)
Mutation HOT-SPOT CpG
Allele code AKU_DB_216c
Type substitution
Re-site (+)LpnPI;(-)BssSI
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_00170 10 c.674G>C r.(?) p.(Arg225Pro) R225P missense Hexamer disruption Usher et al. (2015) CpG AKU_DB_216c substitution (+)LpnPI;(-)BssSI - DNA SEQ exon
+/+? Parent #1 AKU_00170 10 c.674G>C r.(?) p.(Arg225Pro) R225P missense Hexamer disruption Usher et al. (2015) CpG AKU_DB_216a substitution (+)LpnPI;(-)BssSI - DNA SEQ exon