Proband information


Proband id 3416
Systematic Name
(NM_004992.3:)
c.1158_1198del41
Protein name
(NP_004983)
p.Pro387fs
Alternate systematic Name
(NM_001110792.1:)
c.1194_1234del41
Alternate Protein name
(NP_001104262)
p.(Pro399Glnfs*4)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296081_153296121del41
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exon 4
Source of DNA blood
Carrier
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1158_1198del41 p.Pro387fs Female Rett syndrome-not certain 3416 Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972
2 c.1158_1198del41 p.Pro387fs Female Rett syndrome-not certain 3417 Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972