Proband information
Proband id | 140 |
---|---|
Systematic Name (NM_004992.3:) |
c.785_818del34 |
Protein name (NP_004983) |
p.Gln262fs |
Alternate systematic Name (NM_001110792.1:) |
c.821_854del34 |
Alternate Protein name (NP_001104262) |
p.(Gln274Argfs*16) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296461_153296494del34 |
Mutation type | Frameshift insertion or deletion |
Domain | TRD-NLS |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Exons 2-4 |
Source of DNA | blood |
Carrier | N |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Unknown |
Sporadic/Familial | Sporadic |
Phenotype-class | Rett syndrome-Not certain |
Reference | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.785_818del34 | p.Gln262fs | Unknown | Rett syndrome-Not certain | 140 | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 |