Proband information
Proband id | 5233 |
---|---|
Systematic Name (NM_004992.3:) |
c.-113C>T |
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.48C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363075G>A |
Mutation type | splicing |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | not stated |
Extent | not certain |
Source of DNA | not certain |
Carrier | Y |
Carrier result | de novo |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | A synonymous change, p.Gly16Gly in MECP2 exon 1, causes a cyrptic splice event in a Rett syndrome patient:Sheikh, T.I., Mittal, K., Willis, M.J., Vincent, J.B.:Orphanet Journal of Rare Disorders: 23866855 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.-113C>T | p.(=) | Female | de novo | Rett syndrome-classical | 5233 | A synonymous change, p.Gly16Gly in MECP2 exon 1, causes a cyrptic splice event in a Rett syndrome patient:Sheikh, T.I., Mittal, K., Willis, M.J., Vincent, J.B.:Orphanet Journal of Rare Disorders: 23866855 |