Proband information


Proband id 3875
Systematic Name
(NM_004992.3:)		 c.[1373G>A; 1448_*29del43]
Protein name
(NP_004983)		 p.[Arg458His; Glu483fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[1409G>A;1484_*29del43]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153295906C>T;153295789_153295831del43]
Mutation type frameshift insertion or deletion, missense
Domain c-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 1-4
Source of DNA not certain
Carrier Y
Carrier result R458H from unaffected father, deletion on same allele
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-not certain
Reference Two sisters with Rett syndrome and non-identical paternally-derived microdeltions in the MECP2 gene:Rosser, L.G., McKee, S., Millar D.S., Archer, H., Hughes, J., Butler, R., Chuzhanova, N., Cooper, D.N., Lazarou, L.P.:Genomic Med: 18810657

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1373G>A; 1448_*29del43] p.[Arg458His; Glu483fs] Female R458H from unaffected father, deletion on same allele Rett syndrome-not certain 3875 Two sisters with Rett syndrome and non-identical paternally-derived microdeltions in the MECP2 gene:Rosser, L.G., McKee, S., Millar D.S., Archer, H., Hughes, J., Butler, R., Chuzhanova, N., Cooper, D.N., Lazarou, L.P.:Genomic Med: 18810657