Proband information


Proband id 4803
Systematic Name
(NM_004992.3:)		 c.1030C>G
Protein name
(NP_004983)		 p.Arg344Gly
Alternate systematic Name
(NM_001110792.1:)		 c.1066C>G
Alternate Protein name
(NP_001104262)		 p.(Arg356Gly)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296249G>C
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent all 4 exons
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh F.:Journal of Child Neurology: 21940684

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1030C>G p.Arg344Gly Female de novo Rett syndrome-classical 4803 Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh F.:Journal of Child Neurology: 21940684