Proband information


Proband id 3610
Systematic Name
(NM_004992.3:)
c.1158_1186del29insCCA
Protein name
(NP_004983)
p.Pro387Hisfs*9
Alternate systematic Name
(NM_001110792.1:)
c.1194_1222delinsCCA
Alternate Protein name
(NP_001104262)
p.(Pro399Hisfs*9)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296093_153296121delinsTGG
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1158_1186del29insCCA p.Pro387Hisfs*9 Female de novo Rett syndrome-not certain 3610 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