Proband information
Proband id | 1144 |
---|---|
Systematic Name (NM_004992.3:) |
c.1164_1172del9 |
Protein name (NP_004983) |
p.Pro389_Pro391del |
Alternate systematic Name (NM_001110792.1:) |
c.1200_1208del9 |
Alternate Protein name (NP_001104262) |
p.(Pro401_Pro403del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296107_153296115del9 |
Mutation type | In-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | NC |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Not certain |
Reference | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1164_1172del9 | p.Pro389_Pro391del | Female | Rett syndrome-Not certain | 1144 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |