LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000424)
Patient ID AKU_DB_233
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00162
Exon 12
DNA change c.926G>T
RNA change r.(?)
Protein p.(Gly309Val)
Original description G309V
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference Nemethova et al. (2016)
Mutation HOT-SPOT -
Allele code AKU_DB_233b
Type substitution
Re-site (+)SfcI;(-)BpmI, BsaJI, BssKI, BstNI, PspGI, ScrFI, StyD4I
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_00162 12 c.926G>T r.(?) p.(Gly309Val) G309V missense Hexamer disruption Nemethova et al. (2016) - AKU_DB_233b substitution (+)SfcI;(-)BpmI, BsaJI, BssKI, BstNI, PspGI, ScrFI, StyD4I - DNA SEQ exon
+/? Parent #1 AKU_00162 12 c.926G>T r.(?) p.(Gly309Val) G309V missense Hexamer disruption Nemethova et al. (2016) - AKU_DB_233a substitution (+)SfcI;(-)BpmI, BsaJI, BssKI, BstNI, PspGI, ScrFI, StyD4I - DNA SEQ exon