Proband information


Proband id 2068
Systematic Name
(NM_004992.3:)		 c.1168_1173del6
Protein name
(NP_004983)		 p.Pro390_Pro391del
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 In-frame insertion or deletion
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent Fragment containing mutation found in relative
Source of DNA Blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
Reference :::

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 :::