LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000510)
Patient ID AKU_TR2_0138
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin France
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00085
Exon 12
DNA change c.961C>T
RNA change r.(?)
Protein p.(Arg321*)
Original description R321*
Variant remarks nonsense
Predicted Mutation Effect** -
Reference Rodriguez et al. (2000)
Mutation HOT-SPOT CpG
Allele code AKU_TR2_0138a
Type substitution
Re-site (-)TaqI
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_00043 07 c.458A>G r.(?) p.(Asp153Gly) D153G missense Protomer destabilisation de Bernabe et al. (1998) CCC triplet AKU_TR2_0138b substitution (-)BsmFI - DNA SEQ exon
+/+ Parent #1 AKU_00085 12 c.961C>T r.(?) p.(Arg321*) R321* nonsense - Rodriguez et al. (2000) CpG AKU_TR2_0138a substitution (-)TaqI - DNA SEQ exon