Proband information
Proband id | 4219 |
---|---|
Systematic Name (NM_004992.3:) |
c.1142_1227del86 |
Protein name (NP_004983) |
p.Pro381fs |
Alternate systematic Name (NM_001110792.1:) |
c.1178_1263del86 |
Alternate Protein name (NP_001104262) |
p.(Pro393Glnfs*26) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296052_153296137del86 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 3,4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | found in affected brother but not in unaffected mother |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | familial |
Phenotype-class | Rett syndrome-male variant |
Reference | Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1142_1227del86 | p.Pro381fs | Male | found in affected brother but not in unaffected mother | Rett syndrome-male variant | 4219 | Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342 |
2 | c.1142_1227del86 | p.Pro381fs | Male | found in affected brother but not in unaffected mother | Rett syndrome-male variant | 4220 | Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342 |
3 | c.1142_1227del86 | p.Pro381fs | Female | found in two sons with atypical RTT | Not Rett synd. | 4221 | Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342 |