Variant information

Systematic Name c.377A>T
Protein name p.Asn126Ile
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information

Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-infant-onset encephalopathy
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.377A>T p.Asn126Ile missense MBD Unknown Male Not Rett synd. 6620 :::