Proband information


Proband id 3559
Systematic Name
(NM_004992.3:)
c.913A>G
Protein name
(NP_004983)
p.Lys305Glu
Alternate systematic Name
(NM_001110792.1:)
c.949A>G
Alternate Protein name
(NP_001104262)
p.(Lys317Glu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296366T>C
Mutation type missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
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.913A>G p.Lys305Glu Female de novo Rett syndrome-not certain 3559 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