Proband information
Proband id | 1179 |
---|---|
Systematic Name (NM_004992.3:) |
c.1158_1186del29 |
Protein name (NP_004983) |
p.Pro387fs |
Alternate systematic Name (NM_001110792.1:) |
c.1194_1222del29 |
Alternate Protein name (NP_001104262) |
p.(Pro399Argfs*8) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296093_153296121del29 |
Mutation type | Frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | Y |
Carrier result | Neither parent has variation |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Preserved speech |
Reference | Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1158_1186del29 | p.Pro387fs | Female | Neither parent has variation | Rett syndrome-Preserved speech | 1179 | Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022 |