Proband information


Proband id 2786
Systematic Name
(NM_004992.3:)		 c.378-?_1337+?del
Protein name
(NP_004983)		 p.Asn126fs
Alternate systematic Name
(NM_001110792.1:)		 c.414_1373del
Alternate Protein name
(NP_001104262)		 p.(Pro139_Ala458del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295942_153296901del
Mutation type exon deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection MLPA
Extent Exons1-8
Source of DNA blood
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-classical
Reference Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.378-?_1337+?del p.Asn126fs Female Rett syndrome-classical 2786 Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625
2 c.378-?_1337+?del p.Asn126fs Female Rett syndrome-classical 2792 Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625