Proband information


Proband id 6597
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
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 :::