Variant information


Systematic Name
(NM_004992.3:)
c.1159_1160delCCinsT
Protein name
(NP_004983)
p.Pro387fs
Alternate systematic Name
(NM_001110792.1:)
c.1195_1196delinsT
Alternate Protein name
(NP_001104262)
p.(Pro399Serfs*22)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296119_153296120delinsA
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1159_1160delCCinsT p.Pro387fs Female Not Rett synd. 4773 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 View details
2 c.1159_1160delCCinsT p.Pro387fs Female Rett syndrome-atypical 4774 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 View details
3 c.1159_1160delCCinsT p.Pro387fs Female Not Rett synd. 4775 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 View details
4 c.1159_1160delCCinsT p.Pro387fs Male Rett syndrome-not certain 4776 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 View details