Proband information


Proband id 4737
Systematic Name
(NM_004992.3:)		 c.401C>T
Protein name
(NP_004983)		 p.Ser134Phe
Alternate systematic Name
(NM_001110792.1:)		 c.437C>T
Alternate Protein name
(NP_001104262)		 p.(Ser146Phe)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296878G>A
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.401C>T p.Ser134Phe Female Not Known 1740 :Friez, Michael::
2 c.401C>T p.Ser134Phe Female Rett syndrome-classical 2986 Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954
3 c.401C>T p.Ser134Phe Female de novo Rett syndrome-classical 3624 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
4 c.401C>T p.Ser134Phe Female Rett syndrome-not certain 4737 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
5 c.401C>T p.Ser134Phe Female Rett syndrome-classical 6594 :::