Proband information


Proband id 1654
Systematic Name
(NM_004992.3:)
c.815C>T
Protein name
(NP_004983)
p.Pro272Leu
Alternate systematic Name
(NM_001110792.1:)
c.851C>T
Alternate Protein name
(NP_001104262)
p.(Pro284Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296464G>A
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection dhplc
Extent Exons 2-4
Source of DNA Blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.815C>T p.Pro272Leu Female Unaffected nonmosaic father carrier, unaffected sister carrier Rett syndrome-Not certain 1652 :::
2 c.815C>T p.Pro272Leu Male Relative of proband Not Rett synd. 1653 :::
3 c.815C>T p.Pro272Leu Female Relative of proband Not Rett synd. 1654 :::
4 c.815C>T p.Pro272Leu Female Rett syndrome-Atypical 2127 :Cardiff, UK::
5 c.815C>T p.Pro272Leu Female paternal Rett syndrome-Classical 2634 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
6 c.815C>T p.Pro272Leu Male present in healthy male Not Rett synd. 2768 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510
7 c.815C>T p.Pro272Leu Female Not Rett synd. 3930 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510
8 c.815C>T p.Pro272Leu Male paternal Not Rett synd. 3977 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