Proband information
Proband id | 3008 |
---|---|
Systematic Name (NM_004992.3:) |
c.874_875insA |
Protein name (NP_004983) |
p.Ser292fs |
Alternate systematic Name (NM_001110792.1:) |
c.910_911insA |
Alternate Protein name (NP_001104262) |
p.(Ser304Tyrfs*39) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296404_153296405insT |
Mutation type | frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | N |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.874_875insA | p.Ser292fs | Female | Rett syndrome-classical | 3008 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 |