Variant information


Systematic Name
(NM_004992.3:)		 c.302C>G
Protein name
(NP_004983)		 p.Pro101Arg
Alternate systematic Name
(NM_001110792.1:)		 c.338C>G
Alternate Protein name
(NP_001104262)		 p.(Pro113Arg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297733G>C
Mutation type Missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.302C>G p.Pro101Arg Female Rett syndrome-Not certain 190 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 View details
2 c.302C>G p.Pro101Arg Female Not Rett synd. 1152 Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein:Watson, Pamela, Black, Graeme, Ramsden, Simon, Barrow, Margaret, Super, Maurice, Kerr, Bronwyn, Clayton-Smith, Jill:Journal of Medical Genetics: 11283202 View details
3 c.302C>G p.Pro101Arg Female Not Known 4426 :Das, S., Dempsey, M. U. Chicago:: View details
4 c.302C>G p.Pro101Arg Female Rett syndrome-classical 6598 ::: View details
5 c.302C>G p.Pro101Arg Female Rett syndrome-classical 6597 ::: View details