Proband information


Proband id 1637
Systematic Name
(NM_004992.3:)		 c.1441G>A
Protein name
(NP_004983)		 p.Val481Met
Alternate systematic Name
(NM_001110792.1:)		 c.1477G>A
Alternate Protein name
(NP_001104262)		 p.(Val493Met)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295838C>T
Mutation type Missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection dhplc
Extent Exons 2-4
Source of DNA Blood
Carrier N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1441G>A p.Val481Met Female Rett syndrome-Not certain 1637 :Bunyan, D.::
2 c.1441G>A p.Val481Met Female Rett syndrome-classical 4899 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191