Proband information
Proband id | 4776 |
---|---|
Systematic Name (NM_004992.3:) |
c.1159_1160delCCinsT |
Protein name (NP_004983) |
p.Pro387fs |
Alternate systematic Name (NM_001110792.1:) |
c.1195_1196delinsT |
Alternate Protein name (NP_001104262) |
p.(Pro399Serfs*22) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296119_153296120delinsA |
Mutation type | frameshift combined insertion and deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | entire coding |
Source of DNA | blood |
Carrier | Y |
Carrier result | inherited from mother with cognitive impair |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | familial |
Phenotype-class | Rett syndrome-not certain |
Reference | Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1159_1160delCCinsT | p.Pro387fs | Female | in offspring with Rett | Not Rett synd. | 4773 | Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 |
2 | c.1159_1160delCCinsT | p.Pro387fs | Female | inherited from mother with cognitive impair | Rett syndrome-atypical | 4774 | Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 |
3 | c.1159_1160delCCinsT | p.Pro387fs | Female | inherited from mother with cognitive impair | Not Rett synd. | 4775 | Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 |
4 | c.1159_1160delCCinsT | p.Pro387fs | Male | inherited from mother with cognitive impair | Rett syndrome-not certain | 4776 | Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 |