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 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 Male
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 :::