Variant information
Systematic Name (NM_004992.3:) |
c.[377+22C>G(;)378-74C>T] |
---|---|
Protein name (NP_004983) |
intronic variation |
Alternate systematic Name (NM_001110792.1:) |
c.[413+22C>G;414-74C>T] |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153297636G>C;153296975G>A] |
Mutation type | Intronic variation |
Domain | Intronic |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[377+22C>G(;)378-74C>T] | intronic variation | Female | Not Known | 2045 | ::: | View details |