Proband information


Proband id 1650
Systematic Name
(NM_004992.3:)		 c.1340C>T
Protein name
(NP_004983)		 p.Ala447Val
Alternate systematic Name
(NM_001110792.1:)		 c.1376C>T
Alternate Protein name
(NP_001104262)		 p.(Ala459Val)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295939G>A
Mutation type Missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection dhplc
Extent Exons 2-4
Source of DNA Blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1340C>T p.Ala447Val Female Rett syndrome-Not certain 1650 :::