Proband information


Proband id 2817
Systematic Name
(NM_004992.3:)		 c.932C>T
Protein name
(NP_004983)		 p.Thr311Met
Alternate systematic Name
(NM_001110792.1:)		 c.968C>T
Alternate Protein name
(NP_001104262)		 p.(Thr323Met)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296347G>A
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent promoter and exons 1-4
Source of DNA blood
Carrier NC
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial NK
Phenotype-class Rett syndrome-classical
Reference Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.932C>T p.Thr311Met Female Rett syndrome-Not certain 1858 :Bunyan, D.::
2 c.932C>T p.Thr311Met Female Rett syndrome-classical 2817 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
3 c.932C>T p.Thr311Met Female in mother Not Rett synd. 4888 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
4 c.932C>T p.Thr311Met Female in daughter with nonspecific mental retardation Not Rett synd. 4889 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191