LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000684)
Patient ID AKU_DB_384
Disease AKU
Reference Mwafi et al. 2021, Jordan:Al-Karak
Remarks Compound heterozygous
# Reported 1
Geographic origin Jordan
Patient/Affected_per_Family 2
Families Patients 1
Submitter Nesrin Mwafi

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00254
Exon 10
DNA change c.673C>T
RNA change r.(?)
Protein p.(Arg225Cys)
Original description R225C
Links rs756789146
Variant remarks missense
Predicted Mutation Effect** ?
Reference Mwafi et al. 2021
Mutation HOT-SPOT -
Allele code AKU_DB_384b
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 #2 AKU_00254 10 c.673C>T r.(?) p.(Arg225Cys) R225C rs756789146 missense ? Mwafi et al. 2021 - AKU_DB_384b substitution ? - DNA SEQ exon
+/+? Parent #1 AKU_00254 10 c.673C>T r.(?) p.(Arg225Cys) R225C rs756789146 missense ? Mwafi et al. 2021 - AKU_DB_384b substitution ? - DNA SEQ exon