Proband information
Proband id | 1390 |
---|---|
Systematic Name (NM_004992.3:) |
c.1075T>C |
Protein name (NP_004983) |
p.Ser359Pro |
Alternate systematic Name (NM_001110792.1:) |
c.1111T>C |
Alternate Protein name (NP_001104262) |
p.(Ser371Pro) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296204A>G |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Not known |
Source of DNA | Not known |
Carrier | Y |
Carrier result | See data in III-4 |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Not Rett synd.-Unaffected family member |
Reference | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1075T>C | p.Ser359Pro | Male | Unaffected brother III-5 is not carrier, unaffected father II-5 is not carrier, unaffected mother II-4 is carrier, unaffected maternal grandmother I-1 is not carrier, unaffected maternal uncle II-1 is not carrier, unaffected maternal aunt II-2 is carrier, unaffected maternal cousin III-1 is carrier, unaffected maternal cousin III-2 is carrier, unaffected maternal cousin III-3 (male) is carrier | Rett syndrome-Male variant | 1388 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 |
2 | c.1075T>C | p.Ser359Pro | Female | See data in III-4 | Not Rett synd. | 1389 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 |
3 | c.1075T>C | p.Ser359Pro | Female | See data in III-4 | Not Rett synd. | 1390 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 |
4 | c.1075T>C | p.Ser359Pro | Female | See data in III-4 | Not Rett synd. | 1391 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 |
5 | c.1075T>C | p.Ser359Pro | Female | See data in III-4 | Not Rett synd. | 1392 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 |
6 | c.1075T>C | p.Ser359Pro | Male | See data in III-4 | Not Rett synd. | 1393 | Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461 |
7 | c.1075T>C | p.Ser359Pro | Female | Rett syndrome-not certain | 3517 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 |