Proband information


Proband id 1842
Systematic Name
(NM_004992.3:)		 c.1160_1200del41
Protein name
(NP_004983)		 p.Pro387fs
Alternate systematic Name
(NM_001110792.1:)		 c.1196_1236del41
Alternate Protein name
(NP_001104262)		 p.(Pro399Glnfs*4)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296079_153296119del41
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DHPLC
Extent Exons 2-4
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-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1160_1200del41 p.Pro387fs Female Neither parent has variation Rett syndrome-Classical 348 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
2 c.1160_1200del41 p.Pro387fs Female Neither parent has variation Rett syndrome-Not certain 1842 :Bunyan, D.::