Proband information


Proband id 4218
Systematic Name
(NM_004992.3:)		 c.[=/316C>T]
Protein name
(NP_004983)		 p.[=/Arg106Trp]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 3,4
Source of DNA blood
Carrier Y
Carrier result absent in mother
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-male variant
Reference Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[=/316C>T] p.[=/Arg106Trp] Male absent in mother Rett syndrome-male variant 4218 Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342