Variant information


Systematic Name c.386G>T
Protein name p.Gly129Val
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
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.386G>T p.Gly129Val Missense MBD Unknown Female Not Known 2137 :Cardiff, UK::
2 c.386G>T p.Gly129Val missense MBD Unknown Female Rett syndrome-not certain 3528 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071