Proband information

Proband id 445
Systematic Name
Protein name
3'UTR variation
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Detection direct
Extent Parts of exon 4
Source of DNA blood
Carrier 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 Gender Carrier result Phenotype Proband id Reference
1 c.*8C>T 3'UTR variation Male Relative of proband Not Rett synd. 445 :::
2 c.*8C>T 3'UTR variation Female Relative of proband Not Rett synd. 449 :::