Variant information


Systematic Name c.[880C>T(;)*9G>A]
Protein name "p.Arg294*, 3'UTR variation"
Mutation type Nonsense, 3'UTR variation
Domain TRD, 3'UTR
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Neither parent has R294X mutation, mother has 1461*9G>A variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[880C>T(;)*9G>A] "p.Arg294*, 3'UTR variation" Nonsense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Female Not Known 2041 :::