Variant information


Systematic Name
(NM_004992.3:)		 c.1153_1188del36
Protein name
(NP_004983)		 p.Pro385_Ser396del
Alternate systematic Name
(NM_001110792.1:)		 c.1189_1224del36
Alternate Protein name
(NP_001104262)		 p.(Pro397_Ser408del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296091_153296126del36
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1153_1188del36 p.Pro385_Ser396del Female Rett syndrome-not certain 4916 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 View details