Proband information
Proband id | 2396 |
---|---|
Systematic Name (NM_004992.3:) |
c.720C>G |
Protein name (NP_004983) |
p.Thr240Thr |
Alternate systematic Name (NM_001110792.1:) |
c.756C>G |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296559G>C |
Mutation type | Silent |
Domain | TRD |
Pathogenicity | Silent polymorphism |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
Detection | direct |
Extent | Fragment containing variation found in relative |
Source of DNA | Blood |
Carrier | NA |
Carrier result | Relative of proband |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Not Rett synd.-Unaffected family member |
Reference | Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.720C>G | p.Thr240Thr | Female | Unaffected mother is a carrier | Not Rett synd. | 2395 | Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946 |
2 | c.720C>G | p.Thr240Thr | Female | Relative of proband | Not Rett synd. | 2396 | Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946 |