Proband information



Proband id 4442
Systematic Name c.464T>G
Protein name p.Phe155Cys
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Known
Reference :Das, S., Dempsey, M. U. Chicago::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
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::