Proband id |
2045 |
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 |
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 |
::: |