LOVD - Variant listings for HGD

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Patient data (#0000724)
Patient ID AKU_DB_424
Disease AKU
Reference submitted, Dr. Ni-Chung Lee, Taiwan:Taipei
Remarks Compound heterozygous
# Reported 1
Geographic origin Taiwan
Patient/Affected_per_Family 1
Families Patients 1
Submitter Ni-Chung Lee

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00246
Exon 13
DNA change c.1084G>A
RNA change r.(?)
Protein p.(Gly362Arg)
Original description G362R
Links ?
Variant remarks missense
Predicted Mutation Effect** ?
Reference submitted, Dr. Ni-Chung Lee
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_424b
Type deletion
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 #2 AKU_00248 01i c.16-2063A>C r.(?) p.(Tyr5_Ile6insVal*17) in1 pseudoexon ? aberrant splicing, pseudogene inclusion - submitted, Dr. Ni-Chung Lee - AKU_DB_424a substitution ? - DNA SEQ intron
+/+? Parent #1 AKU_00246 13 c.1084G>A r.(?) p.(Gly362Arg) G362R ? missense ? submitted, Dr. Ni-Chung Lee CCC triplet AKU_DB_424b deletion ? - DNA SEQ exon