Variant information

Systematic Name c.[378-74C>T;602C>T];[378-74C>T]
Protein name p.[Ala201Val];[=]
Mutation type Intronic variation, missense
Domain Intronic, inter-domain region
Pathogenicity Polymorphism not causing disease

Proband information

Source of DNA Blood
Detection direct
Extent Fragment containing mutation found in relative
Number of chromosomes checked
Carrier status checked NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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.[378-74C>T;602C>T];[378-74C>T] p.[Ala201Val];[=] Intronic variation, missense Intronic, inter-domain region Polymorphism not causing disease Female Not Rett synd. 2053 :::