Variant information


Systematic Name c.[1189G>A(;)*55C>G]
Protein name "p.Glu397Lys, 3'UTR variation"
Mutation type Missense, 3'UTR variation
Domain C-term, 3'UTR
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
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.[1189G>A(;)*55C>G] "p.Glu397Lys, 3'UTR variation" Missense, 3'UTR variation C-term, 3'UTR Polymorphism not causing disease Female Not Known 2055 :::