LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000523)
Patient ID AKU_TR2_0226
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Slovakia
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_00042
Exon 07
DNA change c.457dupG
RNA change r.(?)
Protein p.(Asp153Glyfs*26)
Original description D153fs (G152fs)
Variant remarks frameshift
Predicted Mutation Effect** -
Reference Gehrig et al. (1997)
Mutation HOT-SPOT CCC triplet
Allele code AKU_TR2_0226a
Type insertion
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 #2 AKU_00042 07 c.457dupG r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) frameshift - Gehrig et al. (1997) CCC triplet AKU_TR2_0226b insertion - - DNA SEQ exon
+/+ Parent #1 AKU_00042 07 c.457dupG r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) frameshift - Gehrig et al. (1997) CCC triplet AKU_TR2_0226a insertion - - DNA SEQ exon