LOVD - Variant listings for HGD

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Patient data (#0000562)
Patient ID AKU_DB_305
Disease AKU
Reference submitted, Russia:Moscow
Remarks Homozygot
# Reported 1
Geographic origin Russia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Alexander Kuzin

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00221
Exon 10
DNA change c.753C>T
RNA change r.(?)
Protein p.(Gly251Gly)
Original description G251G
Links -
Variant remarks silent/aberrant splicing (creating novel DS)
Predicted Mutation Effect** -
Reference submitted, Bychkov et al. (2021)
Mutation HOT-SPOT -
Allele code AKU_DB_305a
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_00221 10 c.753C>T r.(?) p.(Gly251Gly) G251G - silent/aberrant splicing (creating novel DS) - submitted, Bychkov et al. (2021) - AKU_DB_305b substitution ? - DNA SEQ exon
+/? Parent #1 AKU_00221 10 c.753C>T r.(?) p.(Gly251Gly) G251G - silent/aberrant splicing (creating novel DS) - submitted, Bychkov et al. (2021) - AKU_DB_305a substitution ? - DNA SEQ exon