Proband information


Proband id 2812
Systematic Name
(NM_004992.3:)		 c.482G>A
Protein name
(NP_004983)		 p.Gly161Glu
Alternate systematic Name
(NM_001110792.1:)		 c.518G>A
Alternate Protein name
(NP_001104262)		 p.(Gly173Glu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296797C>T
Mutation type missense
Domain MBD
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.482G>A p.Gly161Glu Female Rett syndrome-classical 2812 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