Proband information

Proband id 2055
Systematic Name
Protein name
"p.Glu397Lys, 3'UTR variation"
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense, 3'UTR variation
Domain C-term, 3'UTR
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier 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 Gender Carrier result Phenotype Proband id Reference
1 c.[1189G>A(;)*55C>G] "p.Glu397Lys, 3'UTR variation" Female Not Known 2055 :::