Proband information


Proband id 143
Systematic Name
(NM_004992.3:)
c.914_1172del259
Protein name
(NP_004983)
p.Lys305fs
Alternate systematic Name
(NM_001110792.1:)
c.950_1208del259
Alternate Protein name
(NP_001104262)
p.(Lys317Metfs*18)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296107_153296365del259
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Unaffected father 37 has P376S polymorphism, unaffected sister 39 has P376S polymorphism, unaffected mother is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.914_1172del259 p.Lys305fs Unknown Unaffected father 37 has P376S polymorphism, unaffected sister 39 has P376S polymorphism, unaffected mother is not carrier Rett syndrome-Not certain 143 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854