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 or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :Cardiff, UK::

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 :::