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 |
::: |