Proband information


Proband id 3528
Systematic Name
(NM_004992.3:)		 c.386G>T
Protein name
(NP_004983)		 p.Gly129Val
Alternate systematic Name
(NM_001110792.1:)		 c.422G>T
Alternate Protein name
(NP_001104262)		 p.(Gly141Val)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296893C>A
Mutation type missense
Domain MBD
Pathogenicity Unknown
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.386G>T p.Gly129Val Female Not Known 2137 :Cardiff, UK::
2 c.386G>T p.Gly129Val Female de novo Rett syndrome-not certain 3528 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