Proband information

Proband id 6598
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.302C>G p.Pro101Arg Female No unaffected relatives found to have disease-causing mutations 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 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 Female Not Known 4426 :Das, S., Dempsey, M. U. Chicago::
4 c.302C>G p.Pro101Arg Female Rett syndrome-classical 6598 :::
5 c.302C>G p.Pro101Arg Female Rett syndrome-classical 6597 :::