Proband information


Proband id 6911
Systematic Name
(NM_004992.3:)
c.608C>T
Protein name
(NP_004983)
p.Thr203Met
Alternate systematic Name
(NM_001110792.1:)
c.644C>T
Alternate Protein name
(NP_001104262)
p.(Thr215Met)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296671G>A
Mutation type missense
Domain Inter-domain region
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection MPS
Extent
Source of DNA blood
Carrier NA
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.608C>T p.Thr203Met Female Rett syndrome-atypical 217 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
2 c.608C>T p.Thr203Met Female Unaffected father has variation Rett syndrome-Not certain 1126 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
3 c.608C>T p.Thr203Met Unknown Rett syndrome-Not certain 1371 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
4 c.608C>T p.Thr203Met Male Relative of proband Not Rett synd. 1547 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
5 c.608C>T p.Thr203Met Female Unaffected father has variation Rett syndrome-Not certain 1850 :Bunyan, D.::
6 c.608C>T p.Thr203Met Male Relative of proband Not Rett synd. 1851 :Bunyan, D.::
7 c.608C>T p.Thr203Met Female Not Known 2123 :Cardiff, UK::
8 c.608C>T p.Thr203Met Male absent in mother Rett syndrome-male variant 4222 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
9 c.608C>T p.Thr203Met Female father is normal, mother is a carrier for the mutation (608C-T; p.T203M) Not Known 4471 :Das, S., Dempsey, M. U. Chicago::
10 c.608C>T p.Thr203Met Female Not Rett synd. 4472 :Das, S., Dempsey, M. U. Chicago::
11 c.608C>T p.Thr203Met Female Not Known 4473 :Das, S., Dempsey, M. U. Chicago::
12 c.608C>T p.Thr203Met Female Rett syndrome-not certain 4752 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
13 c.608C>T p.Thr203Met Female Rett syndrome-atypical 4859 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
14 c.608C>T p.Thr203Met Male not in mother Not Rett synd. 4860 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
15 c.608C>T p.Thr203Met Male Not Rett synd. 6911 :::