Proband information
Proband id | 1139 |
---|---|
Systematic Name (NM_004992.3:) |
c.298C>G |
Protein name (NP_004983) |
p.Leu100Val |
Alternate systematic Name (NM_001110792.1:) |
c.334C>G |
Alternate Protein name (NP_001104262) |
p.(Leu112Val) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297737G>C |
Mutation type | Missense |
Domain | MBD |
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.298C>G | p.Leu100Val | Female | Rett syndrome-Not certain | 1139 | 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 | |
2 | c.298C>G | p.Leu100Val | Female | Rett syndrome-Classical | 1215 | Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567 | |
3 | c.298C>G | p.Leu100Val | Female | Rett syndrome-Not certain | 1648 | ::: | |
4 | c.298C>G | p.Leu100Val | Female | Neither parent has variation | Rett syndrome-atypical | 1946 | Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation:Hammer, S, Dorrani, N, Hartiala, J, Stein, S and Schanen, NC:American Journal of Medical Genetics: 12966522 |
5 | c.298C>G | p.Leu100Val | Female | Rett syndrome-classical | 2804 | Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 | |
6 | c.298C>G | p.Leu100Val | Female | Rett syndrome-not certain | 4903 | Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 | |
7 | c.298C>G | p.Leu100Val | Female | Rett syndrome-classical | 6599 | ::: |