Proband id |
1 |
Systematic Name (NM_004992.3:) |
c.1235_1260del26 |
Protein name (NP_004983) |
p.Val412fs |
Alternate systematic Name (NM_001110792.1:) |
c.1271_1296del26 |
Alternate Protein name (NP_001104262) |
p.(Val424Glyfs*15) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296019_153296044del26 |
Mutation type |
Frameshift insertion or deletion |
Domain |
C-term |
Pathogenicity |
Mutation associated with disease |
Evidence of Pathogenicity |
|
Detection |
|
Extent |
|
Source of DNA |
Blood |
Carrier |
|
Carrier result |
|
Other mutations |
|
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
|
Phenotype-class |
Rett syndrome-Not certain |
Reference |
:Bunyan, D.:: |