Proband information


Proband id 1904
Systematic Name
(NM_004992.3:)		 c.881G>C
Protein name
(NP_004983)		 p.Arg294Pro
Alternate systematic Name
(NM_001110792.1:)		 c.917G>C
Alternate Protein name
(NP_001104262)		 p.(Arg306Pro)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296398C>G
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection Direct sequencing or DHPLC
Extent Exons 2-4
Source of DNA Blood
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 :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.881G>C p.Arg294Pro Female Unaffected father has variation Rett syndrome-Not certain 1903 :::
2 c.881G>C p.Arg294Pro Male Relative of proband Not Rett synd. 1904 :::