Proband information
Proband id | 188 |
---|---|
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 |
Evidence of Pathogenicity | 210 chromosomes tested and not found in 210 chromosomes |
Detection | |
Extent | Exons 2-4 |
Source of DNA | |
Carrier | Y |
Carrier result | Variation not found in parents |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Rett syndrome-Classical |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.756_759delCAGG | p.Arg253fs | Female | Variation not found in parents | 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 |
2 | c.756_759delCAGG | p.Arg253fs | Female | de novo | 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 |