Proband information


Proband id 2666
Systematic Name
(NM_004992.3:)		 c.617G>C
Protein name
(NP_004983)		 p.Gly206Ala
Alternate systematic Name
(NM_001110792.1:)		 c.653G>C
Alternate Protein name
(NP_001104262)		 p.(Gly218Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296662C>G
Mutation type missense
Domain inter-domain region
Pathogenicity Unknown
Evidence of Pathogenicity 173 chromosomes tested and not found in 173 chromosomes
Detection SSCP
Extent exons1-4, complete 3'UTR
Source of DNA blood
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-Autism
Reference MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.617G>C p.Gly206Ala Male Not Rett synd. 2666 MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193
2 c.617G>C p.(Gly206Ala) Female mother and maternal grandmother were both asymptomatic carriers Not Known 6900 :::