Variant information


Systematic Name
(NM_004992.3:)		 c.[380C>T];[380C>T]
Protein name
(NP_004983)		 p.[Pro127Leu];[Pro127Leu]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[380C>T];[380C>T] p.[Pro127Leu];[Pro127Leu] Female Rett syndrome-not certain 3527 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