Proband information


Proband id 3012
Systematic Name
(NM_004992.3:)		 c.1141C>G
Protein name
(NP_004983)		 p.Pro381Ala
Alternate systematic Name
(NM_001110792.1:)		 c.1177C>G
Alternate Protein name
(NP_001104262)		 p.(Pro393Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296138G>C
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result found in unaffected father
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1141C>G p.Pro381Ala Female found in unaffected father Rett syndrome-classical 3012 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
2 c.1141C>G p.Pro381Ala Male Not Rett synd. 4050 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643