Proband information


Proband id 2141
Systematic Name
(NM_004992.3:)		 c.155A>G
Protein name
(NP_004983)		 p.His52Arg
Alternate systematic Name
(NM_001110792.1:)		 c.191A>G
Alternate Protein name
(NP_001104262)		 p.(His64Arg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297880T>C
Mutation type Missense
Domain N-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-not certain
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.155A>G p.His52Arg Female Not Rett synd. 2141 :Cardiff, UK::