Proband information


Proband id 1852
Systematic Name
(NM_004992.3:)
c.749G>A
Protein name
(NP_004983)
p.Arg250His
Alternate systematic Name
(NM_001110792.1:)
c.785G>A
Alternate Protein name
(NP_001104262)
p.(Arg262His)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296530C>T
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection DHPLC
Extent Exons 1-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected father has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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.749G>A p.Arg250His Female Unaffected father has variation Rett syndrome-Not certain 1852 :Bunyan, D.::
2 c.749G>A p.Arg250His Male Relative of proband Not Rett synd. 1853 :Bunyan, D.::