Variant information


Systematic Name
(NM_004992.3:)		 c.904C>T
Protein name
(NP_004983)		 p.Pro302Ser
Alternate systematic Name
(NM_001110792.1:)		 c.940C>T
Alternate Protein name
(NP_001104262)		 p.(Pro314Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296375G>A
Mutation type missense
Domain TRD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.904C>T p.Pro302Ser Female Rett syndrome-Classical 2615 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 View details