Variant information


Systematic Name c.1081C>G
Protein name p.Pro361Ala
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result Mother has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1081C>G p.Pro361Ala Missense C-term Unknown Female Not Known 2154 :Cardiff, UK::
2 c.1081C>G p.Pro361Ala Missense C-term Unknown Female Not Rett synd. 2155 :Cardiff, UK::
3 c.1081C>G p.Pro361Ala Missense C-term Unknown Male Not Known 2156 :Cardiff, UK::
4 c.1081C>G p.Pro361Ala Missense C-term Unknown Female Not Rett synd. 2157 :Cardiff, UK::