Variant information



Systematic Name c.468C>G
Protein name p.Asp156Glu
Mutation type missense
Domain MBD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.468C>G p.Asp156Glu Missense MBD Unknown Female Rett syndrome-Not certain 1243
2 c.468C>G p.Asp156Glu Missense MBD Unknown Female Rett syndrome-Not certain 1244
3 c.468C>G p.Asp156Glu Missense MBD Unknown Unknown Rett syndrome-classical 1522
4 c.468C>G p.Asp156Glu Missense MBD Unknown Female Not Known 1788
5 c.468C>G p.Asp156Glu missense MBD Unknown Female Rett syndrome-not certain 3117
6 c.468C>G p.Asp156Glu missense MBD Unknown Female Rett syndrome-not certain 3440
7 c.468C>G p.Asp156Glu missense MBD Unknown Female Rett syndrome-not certain 3441
8 c.468C>G p.Asp156Glu missense MBD Unknown Female Rett syndrome-classical 3652
9 c.468C>G p.Asp156Glu missense MBD Unknown Female Rett syndrome-classical 3653
10 c.468C>G p.Asp156Glu missense MBD Unknown Female Rett syndrome-Classical 4245
11 c.468C>G p.Asp156Glu missense MBD Unknown Female Rett syndrome-not certain 4319
12 c.468C>G p.Asp156Glu missense MBD Unknown Female Not Known 4443
13 c.468C>G p.Asp156Glu missense MBD Unknown Female Not Known 4444
14 c.468C>G p.Asp156Glu missense MBD Unknown Female Rett syndrome-classical 4849
15 c.468C>G p.Asp156Glu missense MBD Mutation associated with disease Female Rett syndrome-classical 6732