LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000300)
Patient ID AKU_DB_130
Disease AKU
Reference Zatkova et al. (2012), 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 #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00104
Exon 14
DNA change c.1336T>C
RNA change r.(?)
Protein p.(*446Argext*24)
Original description *446ext
Variant remarks extention
Predicted Mutation Effect** -
Reference Vilboux et al. (2009)
Mutation HOT-SPOT -
Allele code AKU_DB_130a
Type substitution
Re-site (+)Taq1
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_00104 14 c.1336T>C r.(?) p.(*446Argext*24) *446ext extention - Vilboux et al. (2009) - AKU_DB_130b substitution (+)Taq1 - DNA SEQ exon
+/+? Parent #1 AKU_00104 14 c.1336T>C r.(?) p.(*446Argext*24) *446ext extention - Vilboux et al. (2009) - AKU_DB_130a substitution (+)Taq1 - DNA SEQ exon