LOVD - Variant listings for HGD

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Patient data (#0000594)
Patient ID AKU_DB_337
Disease AKU
Reference Bychkov et al. (2021), Russia:Moscow
Remarks Homozygot
# Reported 1
Geographic origin Russia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Igor Bychkov

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00233
Exon 10
DNA change c.665C>A
RNA change r.(?)
Protein p.(Ala222Asp)
Original description A222D
Links -
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Soltysova et al. (2021), Bychkov et al. (2021)
Mutation HOT-SPOT -
Allele code AKU_DB_337b
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_00233 10 c.665C>A r.(?) p.(Ala222Asp) A222D - missense Protomer destabilisation Soltysova et al. (2021), Bychkov et al. (2021) - AKU_DB_337b substitution ? - DNA SEQ exon
+/? Parent #1 AKU_00233 10 c.665C>A r.(?) p.(Ala222Asp) A222D - missense Protomer destabilisation Soltysova et al. (2021), Bychkov et al. (2021) - AKU_DB_337a substitution ? - DNA SEQ exon