Variant information


Systematic Name
(NM_004992.3:)		 c.[=/316C>T]
Protein name
(NP_004983)		 p.[=/Arg106Trp]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[=/316C>T] p.[=/Arg106Trp] Male Rett syndrome-male variant 4218 Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342 View details