Variant information


Systematic Name c.1430G>C
Protein name p.Ser477Thr
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection dhplc
Extent Parts of exon 4
Number of chromosomes checked 80 chromosomes tested and not found in 80 chromosomes
Carrier status checked NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1430G>C p.Ser477Thr Missense C-term Polymorphism not causing disease Male Not Rett synd. 394 :::
2 c.1430G>C p.Ser477Thr Missense C-term Polymorphism not causing disease Female Not Rett synd. 395 :::
3 c.1430G>C p.Ser477Thr missense C-term Polymorphism not causing disease Unknown Not Rett synd. 2658 Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248