Variant information


Systematic Name c.378-3C>G
Protein name intronic variation
Mutation type intronic variation
Domain intronic
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.378-3C>G intronic variation Intronic variation Intronic Mutation associated with disease Female Rett syndrome-Classical 2102 :Cardiff, UK::
2 c.378-3C>G intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 3764 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
3 c.378-3C>G intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 6350 :::