Variant information

Systematic Name c.464T>G
Protein name p.Phe155Cys
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.464T>G p.Phe155Cys Missense MBD Unknown Female Rett syndrome-Atypical 2069 :Cardiff, UK::
2 c.464T>G p.Phe155Cys missense MBD Unknown Female Not Known 4442 :Das, S., Dempsey, M. U. Chicago::