LOVD - Variant listings for HGD

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Patient data (#0000415)
Patient ID AKU_TR2_0321
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin France/Belgium
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00074
Exon 10
DNA change c.688C>T
RNA change r.(?)
Protein p.(Pro230Ser)
Original description P230S
Links rs28942100
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Fernandez Canon et al. (1996)
Mutation HOT-SPOT CCC triplet
Allele code AKU_TR2_0321a
Type substitution
Re-site (+)EcoRV
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
Links 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_00185 09 c.553G>A r.(?) p.(Gly185Arg) G185R - missense - Ascher et al. (2019) - AKU_TR2_0321b substitution ? - DNA SEQ exon
+/+ Parent #2 AKU_00074 10 c.688C>T r.(?) p.(Pro230Ser) P230S rs28942100 missense Protomer destabilisation Fernandez Canon et al. (1996) CCC triplet AKU_TR2_0321a substitution (+)EcoRV - DNA SEQ exon