Proband information


Proband id 2144
Systematic Name
(NM_004992.3:)
c.1372C>T
Protein name
(NP_004983)
p.Arg458Cys
Alternate systematic Name
(NM_001110792.1:)
c.1408C>T
Alternate Protein name
(NP_001104262)
p.(Arg470Cys)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295907G>A
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection Not known
Extent Not known
Source of DNA Blood or skin
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1372C>T p.Arg458Cys Female Father has variation Not Known 2143 :Cardiff, UK::
2 c.1372C>T p.Arg458Cys Male Relative of proband Not Rett synd. 2144 :Cardiff, UK::