Variant information


Systematic Name c.[806delG(;) *8C>T]
Protein name p.Gly269fs
Mutation type frameshift insertion or deletion, 3'UTR variation
Domain TRD-NLS, 3'UTR
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked 80 chromosomes tested and not found in 80 chromosomes
Carrier status checked Yes
Carrier result Mother is carrier of 1459+10 C>T only (unless mosaic), Father is not carrier (unless mosaic), normal brother is carrier of 1459+10 C>T only
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[806delG(;) *8C>T] p.Gly269fs frameshift insertion or deletion, 3'UTR variation TRD-NLS, 3'UTR Mutation associated with disease Female Rett syndrome-Classical 446 :::