LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000668)
Patient ID AKU_TU_29
Disease AKU
Reference Kisa et al. (2021), Turkey:Izmir
Remarks Compound heterozygous
# Reported 1
Geographic origin Turkey
Patient/Affected_per_Family 1
Families Patients 1
Submitter Pelin Teke Kisa

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00242
Exon 05
DNA change c.334T>G
RNA change r.(?)
Protein p.(Phe112Val)
Original description P112V
Links -
Variant remarks missense
Predicted Mutation Effect** ?
Reference Kisa et al. (2021)
Mutation HOT-SPOT -
Allele code AKU_TU_29a
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_00242 05 c.334T>G r.(?) p.(Phe112Val) P112V - missense ? Kisa et al. (2021) - AKU_TU_29a substitution ? - DNA SEQ exon
+/+? Parent #2 AKU_00079 11 c.808G>A r.(?) p.(Gly270Arg) G270R rs120074174 missense Protomer destabilisation, Hexamer disruption Muller et al. (1999) CCC triplet, CpG AKU_TU_29b substitution (+)EcoNI - DNA SEQ exon