Variant information


Systematic Name
(NM_004992.3:)		 c.[423C>G];[=]
Protein name
(NP_004983)		 p.[Tyr141*];[=]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Nonsense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[423C>G];[=] p.[Tyr141*];[=] Male Rett syndrome-Male variant 1434 Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene:Schwartzman, J. S., Bernardino, Andrea, Nishimura, Agnes, Gomes, Raquel R. and Zatz, Mayana:Neuropediatrics: 11521215 View details