Variant information


Systematic Name
(NM_004992.3:)		 c.386G>T
Protein name
(NP_004983)		 p.Gly129Val
Alternate systematic Name
(NM_001110792.1:)		 c.422G>T
Alternate Protein name
(NP_001104262)		 p.(Gly141Val)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296893C>A
Mutation type Missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.386G>T p.Gly129Val Female Not Known 2137 :Cardiff, UK:: View details
2 c.386G>T p.Gly129Val Female Rett syndrome-not certain 3528 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 View details