Proband information


Proband id 2207
Systematic Name
(NM_004992.3:)		 c.1061G>A
Protein name
(NP_004983)		 p.Arg354His
Alternate systematic Name
(NM_001110792.1:)		 c.1097G>A
Alternate Protein name
(NP_001104262)		 p.(Arg366His)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296218C>T
Mutation type Missense
Domain C-term
Pathogenicity Unknown
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 Female
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.1061G>A p.Arg354His Female Relative of proband Not Rett synd. 2207 :Cardiff, UK::