Proband information


Proband id 2570
Systematic Name
(NM_004992.3:)		 c.323T>A
Protein name
(NP_004983)		 p.Leu108His
Alternate systematic Name
(NM_001110792.1:)		 c.359T>A
Alternate Protein name
(NP_001104262)		 p.(Leu120His)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297712A>T
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity 200 chromosomes tested and not found in 200 chromosomes
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier N
Carrier result
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.323T>A p.Leu108His Female Rett syndrome-Classical 2570 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