Proband information


Proband id 2497
Systematic Name
(NM_004992.3:)		 c.-131delinsGA
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.30delCinsGA
Alternate Protein name
(NP_001104262)		 p.(Ser10Argfs*32)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363093delinsTC
Mutation type frameshift combined insertion and deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Direct for exon 1, MLPA for exons 1-4
Extent Exon 1
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 Not known
Phenotype-class Rett syndrome-Classical
Reference Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene:D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás:Clinical Genetics: 16630165

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-131delinsGA p.(=) Female Neither parent has variation Rett syndrome-Classical 2497 Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene:D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás:Clinical Genetics: 16630165