LOVD - Variant listings for HGD

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Patient data (#0000387)
Patient ID AKU_DB_215
Disease AKU
Reference Usher et al. (2015), United Kingdom (Great Britain):Liverpool
Remarks Compound heterozygous
# Reported 1
Geographic origin United Kingdom
Patient/Affected_per_Family 1
Families Patients 1
Submitter Jeannette Usher

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00083
Exon 12
DNA change c.899T>G
RNA change r.(?)
Protein p.(Val300Gly)
Original description V300G
Links -
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Fernandez Canon et al. (1996)
Mutation HOT-SPOT -
Allele code AKU_DB_215b
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_215a substitution (+)EcoRV - DNA SEQ exon
+/+ Parent #2 AKU_00083 12 c.899T>G r.(?) p.(Val300Gly) V300G - missense Protomer destabilisation Fernandez Canon et al. (1996) - AKU_DB_215b substitution - - DNA SEQ exon