LOVD - Variant listings for HGD

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Patient data (#0000470)
Patient ID AKU_DB_272
Disease AKU
Reference submitted, United Kingdom (Great Britain):Liverpool
Remarks Homozygot
# Reported 1
Geographic origin United Kingdom
Patient/Affected_per_Family 1
Families Patients 1
Submitter Jeannette Usher

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00054
Exon 08
DNA change c.513G>T
RNA change r.(?)
Protein p.(Lys171Asn)
Original description K171N
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Phornphutkul et al. (2002)
Mutation HOT-SPOT -
Allele code AKU_DB_272b
Type substitution
Re-site (-)SfaNI
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
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_00054 08 c.513G>T r.(?) p.(Lys171Asn) K171N missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_DB_272a substitution (-)SfaNI - DNA SEQ exon
+/+? Parent #1 AKU_00054 08 c.513G>T r.(?) p.(Lys171Asn) K171N missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_DB_272b substitution (-)SfaNI - DNA SEQ exon