Proband information


Proband id 430
Systematic Name
(NM_004992.3:)		 c.598A>T
Protein name
(NP_004983)		 p.Lys200*
Alternate systematic Name
(NM_001110792.1:)		 c.634A>T
Alternate Protein name
(NP_001104262)		 p.(Lys212*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296681T>A
Mutation type Nonsense
Domain Inter-domain region
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Detection dhplc
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is not carrier, Father is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.598A>T p.Lys200* Female Mother is not carrier, Father is not carrier Rett syndrome-Classical 430 :::
2 c.598A>T p.Lys200* Female Rett syndrome-Not certain 1862 :Bunyan, D.::