Proband information


Proband id 5330
Systematic Name
(NM_004992.3:)		 c.605G>A
Protein name
(NP_004983)		 p.Ala202His
Alternate systematic Name
(NM_001110792.1:)		 c.641G>A
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296674C>T
Mutation type Missense
Domain Inter-domain
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 0 chromosomes
Detection direct
Extent
Source of DNA Blood
Carrier Y
Carrier result normal
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference Identification of a novel methyl-CpG binding protein 2 mutation in a rare case using targeted next-generation sequencing technology:Xiao Zhou, et al : :

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.605G>A p.Ala202His Female normal Rett syndrome-atypical 5330 Identification of a novel methyl-CpG binding protein 2 mutation in a rare case using targeted next-generation sequencing technology:Xiao Zhou, et al : :