Proband information


Proband id 2206
Systematic Name
(NM_004992.3:)		 c.[316C>T(;)917G>T(;)1061G>A]
Protein name
(NP_004983)		 p.[Arg106Trp(;)Arg306Leu(;)Arg354His]
Alternate systematic Name
(NM_001110792.1:)		 c.[352C>T;953G>T;1097G>A]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153297719G>A;153296362C>A;153296218C>T]
Mutation type Missense
Domain MBD, TRD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier Y
Carrier result Mother is carrier of R354H variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-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.[316C>T(;)917G>T(;)1061G>A] p.[Arg106Trp(;)Arg306Leu(;)Arg354His] Female Mother is carrier of R354H variation Rett syndrome-Not certain 2206 :Cardiff, UK::