Proband id |
1903 |
Systematic Name (NM_004992.3:) |
c.881G>C |
Protein name (NP_004983) |
p.Arg294Pro |
Alternate systematic Name (NM_001110792.1:) |
c.917G>C |
Alternate Protein name (NP_001104262) |
p.(Arg306Pro) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296398C>G |
Mutation type |
Missense |
Domain |
TRD |
Pathogenicity |
Polymorphism not causing disease |
Evidence of Pathogenicity |
|
Detection |
Direct sequencing or DHPLC |
Extent |
Exons 2-4 |
Source of DNA |
Blood |
Carrier |
Y |
Carrier result |
Unaffected father has variation |
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
Not known |
Phenotype-class |
Rett syndrome-Not certain |
Reference |
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