Proband information


Proband id 2102
Systematic Name
(NM_004992.3:)
c.378-3C>G
Protein name
(NP_004983)
intronic variation
Alternate systematic Name
(NM_001110792.1:)
c.414-3C>G
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296904G>C
Mutation type Intronic variation
Domain Intronic
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
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 Gender Carrier result Phenotype Proband id Reference
1 c.378-3C>G intronic variation Female Rett syndrome-Classical 2102 :Cardiff, UK::
2 c.378-3C>G intronic variation Female de novo 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 Female Rett syndrome-classical 6350 :::