Proband information
Proband id | 1264 |
---|---|
Systematic Name (NM_004992.3:) |
c.55C>T |
Protein name (NP_004983) |
p.Gln19* |
Alternate systematic Name (NM_001110792.1:) |
c.91C>T |
Alternate Protein name (NP_001104262) |
p.(Gln31*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297980G>A |
Mutation type | Nonsense |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | Y |
Carrier result | Neither parent has variation |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Not known |
Phenotype-class | Rett syndrome-Atypical |
Reference | Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome:Kim, Soo-Jeong, Cook, Edwin H.:Human mutation: 10737989 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.55C>T | p.Gln19* | Female | Neither parent has variation | Rett syndrome-Atypical | 1264 | Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome:Kim, Soo-Jeong, Cook, Edwin H.:Human mutation: 10737989 |
2 | c.55C>T | p.Gln19* | Female | Not Known | 4469 | :Das, S., Dempsey, M. U. Chicago:: |