Variant information


Systematic Name
(NM_004992.3:)		 c.756_759delCAGG
Protein name
(NP_004983)		 p.Arg253fs
Alternate systematic Name
(NM_001110792.1:)		 c.792_795delCAGG
Alternate Protein name
(NP_001104262)		 p.(Arg265Serfs*35)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296520_153296523delCCTG
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.756_759delCAGG p.Arg253fs Female Rett syndrome-Classical 188 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 View details
2 c.756_759delCAGG p.Arg253fs Female Rett syndrome-classical 3757 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 View details