Proband information


Proband id 3396
Systematic Name
(NM_004992.3:)		 c.372G>C
Protein name
(NP_004983)		 p.Leu124Phe
Alternate systematic Name
(NM_001110792.1:)		 c.408G>C
Alternate Protein name
(NP_001104262)		 p.(Leu136Phe)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297663C>G
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection DGGE
Extent exons2-4
Source of DNA blood
Carrier
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.372G>C p.Leu124Phe Female Variation not found in parents Rett syndrome-Classical 155 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
2 c.372G>C p.Leu124Phe Female Rett syndrome-classical 3396 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864