LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000414)
Patient ID AKU_TR2_0320
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_00184
Exon 12
DNA change c.995C>G
RNA change r.(?)
Protein p.(Pro332Arg)
Original description P332R
Variant remarks missense
Predicted Mutation Effect** -
Reference Ascher et al. (2019)
Mutation HOT-SPOT -
Allele code AKU_TR2_0320b
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
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_00184 12 c.995C>G r.(?) p.(Pro332Arg) P332R missense - Ascher et al. (2019) - AKU_TR2_0320b substitution ? - DNA SEQ exon
+/+? Parent #2 AKU_00143 13 c.1081G>A r.(?) p.(Gly361Arg) G361R missense Protomer destabilisation Zatkova et al. (2012) CCC triplet AKU_TR2_0320a substitution - - DNA SEQ exon