Proband information


Proband id 6670
Systematic Name
(NM_004992.3:)		 c.1105delC
Protein name
(NP_004983)		 p.His369fs
Alternate systematic Name
(NM_001110792.1:)		 c.1141delC
Alternate Protein name
(NP_001104262)		 p.(His381Ilefs*40)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296174delG
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1105delC p.His369fs Female Not Known 1695 :Friez, Michael::
2 c.1105delC p.His369fs Female Rett syndrome-classical 6670 :::