Proband information


Proband id 394
Systematic Name
(NM_004992.3:)
c.1430G>C
Protein name
(NP_004983)
p.Ser477Thr
Alternate systematic Name
(NM_001110792.1:)
c.1466G>C
Alternate Protein name
(NP_001104262)
p.(Ser489Thr)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295849C>G
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Detection dhplc
Extent Parts of exon 4
Source of DNA blood
Carrier 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 Gender Carrier result Phenotype Proband id Reference
1 c.1430G>C p.Ser477Thr Male Relative of proband Not Rett synd. 394 :::
2 c.1430G>C p.Ser477Thr Female Relative of proband Not Rett synd. 395 :::
3 c.1430G>C p.Ser477Thr 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