Variant information


Systematic Name c.302C>G
Protein name p.Pro101Arg
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection SSCP
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result No unaffected relatives found to have disease-causing mutations
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.302C>G p.Pro101Arg Missense MBD Unknown 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
2 c.302C>G p.Pro101Arg Missense MBD Unknown 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
3 c.302C>G p.Pro101Arg missense MBD Unknown Female Not Known 4426 :Das, S., Dempsey, M. U. Chicago::
4 c.302C>G p.Pro101Arg missense MBD Unknown Female Rett syndrome-classical 6598 :::
5 c.302C>G p.Pro101Arg missense MBD Unknown Female Rett syndrome-classical 6597 :::