Proband information


Proband id 4807
Systematic Name
(NM_004992.3:)		 c.[=/657-?_1316+?del]
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 TRD
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 Male
Sporadic/Familial familial
Phenotype-class Rett syndrome-male variant
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.[=/657-?_1316+?del] p.[=/?] Male de novo Rett syndrome-male variant 4807 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