Variant information

Systematic Name c.317G>T
Protein name p.Arg106Leu
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information

Source of DNA Blood
Detection Direct
Extent Exons 2-4
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result Researcher claims neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.317G>T p.Arg106Leu Missense MBD Unknown Female Rett syndrome-Classical 2484 :::