LOVD - Variant listings for HGD

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Patient data (#0000318)
Patient ID AKU_DB_145
Disease AKU
Reference Nemethova et al. (2016), Jordan:Karak
Remarks Compound heterozygous
# Reported 1
Geographic origin Jordan
Patient/Affected_per_Family 2
Families Patients 1
Submitter Mohammed Alsbou

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00031
Exon 06
DNA change c.365C>T
RNA change r.(?)
Protein p.(Ala122Val)
Original description A122V
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference Phornphutkul et al. (2002)
Mutation HOT-SPOT -
Allele code AKU_DB_145a
Type substitution
Re-site (-)AluI, BpmI
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 #1 AKU_00000 00 c.(?) r.(?) p.(?) unknown unknown - Nemethova et al. (2016) - AKU_DB_145b unknown - - DNA SEQ unknown
+/+? Parent #2 AKU_00031 06 c.365C>T r.(?) p.(Ala122Val) A122V missense Hexamer disruption Phornphutkul et al. (2002) - AKU_DB_145a substitution (-)AluI, BpmI - DNA SEQ exon