Variant information
Systematic Name (NM_004992.3:) |
c.[1189G>A(;)*55C>G] |
---|---|
Protein name (NP_004983) |
"p.Glu397Lys, 3'UTR variation" |
Alternate systematic Name (NM_001110792.1:) |
c.[1225G>A;*55C>G] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296090C>T;153295763G>C] |
Mutation type | Missense, 3'UTR variation |
Domain | C-term, 3'UTR |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[1189G>A(;)*55C>G] | "p.Glu397Lys, 3'UTR variation" | Female | Not Known | 2055 | ::: | View details |