Proband information


Proband id 6626
Systematic Name
(NM_004992.3:)		 c.-146_-138del9
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.15_23del9
Alternate Protein name
(NP_001104262)		 p.(Ala6_Ala8del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363100_153363108del9
Mutation type in-frame insertion or deletion
Domain exon 1
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
Carrier result in unaffected mother
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-146_-138del9 p.(=) Female in daughter with classic RTT Not Rett synd. 6627 :::
2 c.-146_-138del9 p.(=) Female in unaffected mother Rett syndrome-classical 6626 :::