LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000441)
Patient ID AKU_DB_244
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00010
Exon 03
DNA change c.140C>T
RNA change r.(?)
Protein p.(Ser47Leu)
Original description S47L
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference Zatkova et al. (2000a)
Mutation HOT-SPOT CpG
Allele code AKU_DB_244b
Type substitution
Re-site (-)MboI, AlwI, Sau3AI, DpnI, DpnII
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_00010 03 c.140C>T r.(?) p.(Ser47Leu) S47L missense Hexamer disruption Zatkova et al. (2000a) CpG AKU_DB_244b substitution (-)MboI, AlwI, Sau3AI, DpnI, DpnII - DNA SEQ exon
+/+? Parent #1 AKU_00010 03 c.140C>T r.(?) p.(Ser47Leu) S47L missense Hexamer disruption Zatkova et al. (2000a) CpG AKU_DB_244a substitution (-)MboI, AlwI, Sau3AI, DpnI, DpnII - DNA SEQ exon