Variant information


Systematic Name c.298C>G
Protein name p.Leu100Val
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent four exons
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
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 :::