LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000736)
Patient ID AKU_DB_436
Disease AKU
Reference submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Ireland
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00261
Exon 10
DNA change c.709C>T
RNA change r.(?)
Protein p.(Arg237Cys)
Original description R237C
Links rs1171237852
Variant remarks missense
Predicted Mutation Effect** -
Reference submitted, Dr. Andrea Zatkova
Mutation HOT-SPOT -
Allele code AKU_DB_436a
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_00262 07i c.469+24C>A r.(?) p.(?) ivs7+24C>A rs756912701 polymorphism?/aberrant splicing? - submitted, Dr. Andrea Zatkova - AKU_DB_436b substitution ? - DNA SEQ exon
+/+? Parent #1 AKU_00261 10 c.709C>T r.(?) p.(Arg237Cys) R237C rs1171237852 missense - submitted, Dr. Andrea Zatkova - AKU_DB_436a substitution ? - DNA SEQ exon