LOVD - Variant listings for HGD

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Patient data (#0000120)
Patient ID AKU_GEH_1
Disease AKU
Reference Muller et al. (1999), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Germany
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00006
Exon 02
DNA change c.74T>C
RNA change r.(?)
Protein p.(Leu25Pro)
Original description L25P
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Felbor et al. (1999)
Mutation HOT-SPOT CCC triplet
Allele code AKU_GEH_1b
Type substitution
Re-site (+)FauI, AciI
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_00006 02 c.74T>C r.(?) p.(Leu25Pro) L25P missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_GEH_1a substitution (+)FauI, AciI - DNA SEQ exon
+/+? Parent #2 AKU_00006 02 c.74T>C r.(?) p.(Leu25Pro) L25P missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_GEH_1b substitution (+)FauI, AciI - DNA SEQ exon