LOVD - Variant listings for HGD

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Patient data (#0000721)
Patient ID AKU_DB_421
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 #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00248
Exon 01i
DNA change c.16-2063A>C
RNA change r.(?)
Protein p.(Tyr5_Ile6insVal*17)
Original description in1 pseudoexon
Links ?
Variant remarks aberrant splicing, pseudogene inclusion
Predicted Mutation Effect** -
Reference submitted, Dr. Ni-Chung Lee
Mutation HOT-SPOT -
Allele code AKU_DB_421b
Type substitution
Re-site ?
Frequency -
Template DNA
Technique SEQ
Location intron

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_421b substitution ? - DNA SEQ intron
+/+? Parent #1 AKU_00247 13 c.1157_1160delTGGC r.(?) p.(Leu386Hisfs*18) L386fs rs772802378 frameshift - submitted, Dr. Ni-Chung Lee - AKU_DB_421a deletion ? - DNA SEQ exon