Proband information


Proband id 4100
Systematic Name
(NM_004992.3:)
c.1163C>T
Protein name
(NP_004983)
p.Pro388Leu
Alternate systematic Name
(NM_001110792.1:)
c.1199C>T
Alternate Protein name
(NP_001104262)
p.(Pro400Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296116G>A
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1163C>T p.Pro388Leu Female Researcher claims neither parent has variation Rett syndrome-Forme fruste 2476 :::
2 c.1163C>T p.Pro388Leu Female Rett syndrome-classical 4100 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
3 c.1163C>T p.Pro388Leu Female Not Rett synd. 4101 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578