Proband information


Proband id 6865
Systematic Name
(NM_004992.3:)		 c.1168_1173del6
Protein name
(NP_004983)
Alternate systematic Name
(NM_001110792.1:)		 c.1204_1209del6
Alternate Protein name
(NP_001104262)		 p.(Pro402_Pro403del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296106_153296111del6
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection HRM, sequencing
Extent
Source of DNA blood
Carrier
Carrier result mother - heterozygous, father - negative
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial NK
Phenotype-class Not Rett synd.-mental retardation
Reference MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1168_1173del6 p.Pro390_Pro391del Female Rett syndrome-Not certain 4 :Bunyan, D.::
2 c.1168_1173del6 p.Pro390_Pro391del Female Father has variation Not Known 2049 :::
3 c.1168_1173del6 p.Pro390_Pro391del Male Relative of proband Not Rett synd. 2068 :::
4 c.1168_1173del6 p.Pro390_Pro391del Female Rett syndrome-Not certain 2191 :Cardiff, UK::
5 c.1168_1173del6 p.Pro390_Pro391del Female de novo Rett syndrome-atypical 2891 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
6 c.1168_1173del6 p.Pro390_Pro391del Male Not Rett synd. 5250 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494
7 c.1168_1173del6 Female mother - heterozygous, father - negative Not Rett synd. 6865 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
8 c.1168_1173del6 p.Pro390_Pro391del Female de novo Not Rett synd. 6650 :::
9 c.1168_1173del6 p.Pro390_Pro391del Female familial Not Rett synd. 6649 :::
10 c.1168_1173del6 p.Pro390_Pro391del Female familial Not Rett synd. 6648 :::
11 c.1168_1173del6 p.Pro390_Pro391del Male familial Not Rett synd. 6647 :::
12 c.1168_1173del6 p.Pro390_Pro391del Male in daughter with classic RTT Not Rett synd. 6614 :::