Proband information


Proband id 1875
Systematic Name
(NM_004992.3:)
c.[609G>A(;)905C>T]
Protein name
(NP_004983)
p.[Thr203Thr(;)Pro302Leu]
Alternate systematic Name
(NM_001110792.1:)
c.[645G>A;941C>T]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296670C>T;153296374G>A]
Mutation type Silent, missense
Domain Inter-domain region, TRD
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 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.[609G>A(;)905C>T] p.[Thr203Thr(;)Pro302Leu] Female Rett syndrome-Not certain 1875 :Bunyan, D.::