Proband information


Proband id 3865
Systematic Name
(NM_004992.3:)
c.-160A>T
Protein name
(NP_004983)
p.(=)
Alternate systematic Name
(NM_001110792.1:)
c.1A>T
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153363122T>A
Mutation type missense
Domain N-term
Pathogenicity Unknown
Evidence of Pathogenicity 498 chromosomes tested and not found in 498 chromosomes
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier Y
Carrier result mother normal, father not available for testing
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-160A>T p.(=) Female mother normal, father not available for testing Rett syndrome-classical 3865 Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833
2 c.-160A>T p.(=) Female Rett syndrome-classical 6625 :::