Proband information
Proband id | 2390 |
---|---|
Systematic Name (NM_004992.3:) |
c.[1202G>A];[1202G>A] |
Protein name (NP_004983) |
p.[Ser401Asn];[Ser401Asn] |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
Detection | SSCP |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | Y |
Carrier result | Father, paternal grandmother, paternal aunt and mother are carriers. Mother and father are not related. |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Not Rett synd.-autism only |
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.[1202G>A];[1202G>A] | p.[Ser401Asn];[Ser401Asn] | Female | Father, paternal grandmother, paternal aunt and mother are carriers. Mother and father are not related. | Not Rett synd. | 2390 | 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 |