LOVD - Variant listings for HGD

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Patient data (#0000573)
Patient ID AKU_DB_316
Disease AKU
Reference submitted, Russia:Moscow
Remarks Compound heterozygous
# Reported 1
Geographic origin Russia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Alexander Kuzin

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00229
Exon 10
DNA change c.791A>G
RNA change r.(?)
Protein p.(Asn264Ser)
Original description N264S
Links rs1469714335
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_DB_316b
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_00074 10 c.688C>T r.(?) p.(Pro230Ser) P230S rs28942100 missense Protomer destabilisation Fernandez Canon et al. (1996) CCC triplet AKU_DB_316a substitution (+)EcoRV - DNA SEQ exon
+/? Parent #2 AKU_00229 10 c.791A>G r.(?) p.(Asn264Ser) N264S rs1469714335 missense Protomer destabilisation submitted - AKU_DB_316b substitution ? - DNA SEQ exon