Proband information


Proband id 1659
Systematic Name
(NM_004992.3:)		 c.674C>T
Protein name
(NP_004983)		 p.Pro225Leu
Alternate systematic Name
(NM_001110792.1:)		 c.710C>T
Alternate Protein name
(NP_001104262)		 p.(Pro237Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296605G>A
Mutation type Missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity 96 chromosomes tested and not found in 96 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected mother not carrier, both unaffected brothers not carriers
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Male variant
Reference Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2):Moog, Ute, Smeets, Eric E. J., Van Roozendaal, Kees E. P., Schoenmakers, Sam, Herbergs, Jos, Schoonbrood-Lessen, Anneke M. J., Schrander-Stumpel, Connie T. R. M.:European Journal of Paediatric Neurology: 12615169

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.674C>T p.Pro225Leu Male Unaffected mother not carrier, both unaffected brothers not carriers Rett syndrome-Male variant 1659 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2):Moog, Ute, Smeets, Eric E. J., Van Roozendaal, Kees E. P., Schoenmakers, Sam, Herbergs, Jos, Schoonbrood-Lessen, Anneke M. J., Schrander-Stumpel, Connie T. R. M.:European Journal of Paediatric Neurology: 12615169
2 c.674C>T p.Pro225Leu Female Researcher claims neither parent has variation Rett syndrome-Classical 2429 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885