Proband information


Proband id 2621
Systematic Name
(NM_004992.3:)
c.[1063_1188del126; 1189_1231inv; 1232_1236del5]
Protein name
(NP_004983)
p.Ser355fs
Alternate systematic Name
(NM_001110792.1:)
c.[1099_1224del126;1225_1267inv;1268_1272del5]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296091_153296216del126;153296048_153296090inv;153296043_153296047del5]
Mutation type frameshift insertion or deletion
Domain c-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 200 chromosomes tested and not found in 200 chromosomes
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier Y
Carrier result parents negative
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-Classical
Reference Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1063_1188del126; 1189_1231inv; 1232_1236del5] p.Ser355fs Female parents negative Rett syndrome-Classical 2621 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578