Proband information


Proband id 6616
Systematic Name
(NM_004992.3:)
c.961A>G
Protein name
(NP_004983)
p.Lys321Glu
Alternate systematic Name
(NM_001110792.1:)
c.997A>G
Alternate Protein name
(NP_001104262)
p.(Lys333Glu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296318T>C
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
Carrier result de novo
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
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.961A>G p.Lys321Glu Female de novo Rett syndrome-classical 6616 :::