Variant information
Systematic Name (NM_004992.3:) |
c.[880C>T(;)*9G>A] |
---|---|
Protein name (NP_004983) |
"p.Arg294*, 3'UTR variation" |
Alternate systematic Name (NM_001110792.1:) |
c.[916C>T;*9G>A] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296399G>A;153295809C>T] |
Mutation type | Nonsense, 3'UTR variation |
Domain | TRD, 3'UTR |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[880C>T(;)*9G>A] | "p.Arg294*, 3'UTR variation" | Female | Not Known | 2041 | ::: | View details |