Variant information


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

View proband information


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