Proband information

Proband id 6580
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
Carrier result in unaffected mother
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-developmental delay
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1132G>T p.Ala378Ser Female in son with developmental delay Not Rett synd. 6581 :::
2 c.1132G>T p.Ala378Ser Male in unaffected mother Not Rett synd. 6580 :::