LOVD - Variant listings for HGD

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Patient data (#0000722)
Patient ID AKU_DB_422
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_00249
Exon 09
DNA change c.587C>T
RNA change r.(?)
Protein p.(Thr196Ile)
Original description T196I
Links rs781491692
Variant remarks missense
Predicted Mutation Effect** ?
Reference submitted, Dr. Ni-Chung Lee
Mutation HOT-SPOT -
Allele code AKU_DB_422b
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_00243 05 c.291G>A r.(?) p.(Trp97*) W97* rs766714128 nonsense - clinvar database, submitted, Dr. Ni-Chung Lee - AKU_DB_422a substitution ? - DNA SEQ exon
+/+? Parent #2 AKU_00249 09 c.587C>T r.(?) p.(Thr196Ile) T196I rs781491692 missense ? submitted, Dr. Ni-Chung Lee - AKU_DB_422b substitution ? - DNA SEQ exon