Proband information


Proband id 1980
Systematic Name
(NM_004992.3:)		 c.-168-?_*?del
Protein name
(NP_004983)		 p.Met1?
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection RD-PCR
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Classical
Reference Detection of Heterozygous Deletions and Duplications in the MECP2 Gene in Rett Syndrome by Robust Dosage PCR (RD-PCR):Jinxiu Shi, Akane Shibayama, Qiang Liu, Vu Q. Nguyen, Jinong Feng, Mónica Santos, Teresa Temudo, Patricia Maciel, Steve S. Sommer:Human Mutation: 15841480

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-168-?_*?del p.Met1? Female Neither parent has variation Rett syndrome-Classical 1980 Detection of Heterozygous Deletions and Duplications in the MECP2 Gene in Rett Syndrome by Robust Dosage PCR (RD-PCR):Jinxiu Shi, Akane Shibayama, Qiang Liu, Vu Q. Nguyen, Jinong Feng, Mónica Santos, Teresa Temudo, Patricia Maciel, Steve S. Sommer:Human Mutation: 15841480
2 c.-168-?_*?del p.Met1? Female Rett syndrome-classical 2762 Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352