LOVD - Variant listings for HGD

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Patient data (#0000421)
Patient ID AKU_DB_230
Disease AKU
Reference Ascher et al. (2019), Italy:Florence
Remarks Compound heterozygous
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Berardino Porfirio

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00191
Exon 12
DNA change c.990G>C
RNA change r.(?)
Protein p.(Arg330Ser)
Original description R330S
Links -
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Ascher et al. (2019)
Mutation HOT-SPOT -
Allele code AKU_DB_230a
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
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_00191 12 c.990G>C r.(?) p.(Arg330Ser) R330S - missense Protomer destabilisation Ascher et al. (2019) - AKU_DB_230a substitution - - DNA SEQ exon
+/? Parent #2 AKU_00196 13 c.1007-1709_1188+1121del r.(?) p.(Arg336Serfs*5) ex13 del - deletion - Ascher et al. (2019) - AKU_DB_230b deletion - - DNA SEQ, MLPA intron/exon