Proband information


Proband id 2069
Systematic Name
(NM_004992.3:)
c.464T>G
Protein name
(NP_004983)
p.Phe155Cys
Alternate systematic Name
(NM_001110792.1:)
c.500T>G
Alternate Protein name
(NP_001104262)
p.(Phe167Cys)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296815A>C
Mutation type Missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Atypical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.464T>G p.Phe155Cys Female Rett syndrome-Atypical 2069 :Cardiff, UK::
2 c.464T>G p.Phe155Cys Female Not Known 4442 :Das, S., Dempsey, M. U. Chicago::