Proband information


Proband id 144
Systematic Name
(NM_004992.3:)		 c.905C>A
Protein name
(NP_004983)		 p.Pro302His
Alternate systematic Name
(NM_001110792.1:)		 c.941C>A
Alternate Protein name
(NP_001104262)		 p.(Pro314His)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296374G>T
Mutation type Missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity 186 chromosomes tested and not found in 186 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Neither parent is carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.905C>A p.Pro302His Unknown Neither parent is carrier Rett syndrome-Not certain 144 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
2 c.905C>A p.Pro302His Female de novo Rett syndrome-classical 3676 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
3 c.905C>A p.Pro302His Female de novo Rett syndrome-classical 3677 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