LOVD - Variant listings for HGD

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Patient data (#0000725)
Patient ID AKU_DB_425
Disease AKU
Reference Hu et al. (2012), Taiwan:Taipei
Remarks Compound heterozygous
# Reported 1
Geographic origin China
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_00256
Exon 04
DNA change c.221A>T
RNA change r.(?)
Protein p.(Glu74Val)
Original description E74V
Links rs141965690
Variant remarks missense
Predicted Mutation Effect** -
Reference Hu et al. (2012)
Mutation HOT-SPOT -
Allele code AKU_DB_425a
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_00256 04 c.221A>T r.(?) p.(Glu74Val) E74V rs141965690 missense - Hu et al. (2012) - AKU_DB_425a substitution ? - DNA SEQ exon
+/+? Parent #2 AKU_00257 13 c.1095_1100dup r.(?) p.(Ser366_Thr367dup) S366_T367dup - insertion inframe - Hu et al. (2012) - AKU_DB_425b duplication ? - DNA SEQ exon