Proband information


Proband id 4806
Systematic Name
(NM_004992.3:)		 c.248-?_320+?del (exon 3 deletion)
Protein name
(NP_004983)		 p.?
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type in-frame insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection QPCR
Extent all 4 exons sequenced, exon 3 and 4 QPCR
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-classical
Reference Distinct de novo deletions in a brother-sister pair with RTT: a case report:Mittal, K., Gupta, N., Kabra, M., Juyal, R., Thelma, B.K.:American Journal of Medical Genetics B: 21812101

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.248-?_320+?del (exon 3 deletion) p.? Female de novo Rett syndrome-classical 4806 Distinct de novo deletions in a brother-sister pair with RTT: a case report:Mittal, K., Gupta, N., Kabra, M., Juyal, R., Thelma, B.K.:American Journal of Medical Genetics B: 21812101