Variant information


Systematic Name c.*8C>T
Protein name 3'UTR variation
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection direct
Extent Part of exon 3, and parts of exon 4
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Carrier status checked NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.*8C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Male Not Rett synd. 445 :::
2 c.*8C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Female Not Rett synd. 449 :::