Proband information



Proband id 1139
Systematic Name c.298C>G
Protein name p.Leu100Val
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.298C>G p.Leu100Val Missense MBD Unknown 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 Missense MBD Unknown 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 Missense MBD Unknown Female Rett syndrome-Not certain 1648 :::
4 c.298C>G p.Leu100Val Missense MBD Unknown Female 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 missense MBD Unknown 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 missense MBD Unknown 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 missense MBD Unknown Female Rett syndrome-classical 6599 :::