CDKL5 Variant



Variant ID: cm155

Systematic name: c.211A>G

Protein name: p.Asn71Asp

Alternate name(s): p.N71D

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

dbSNP ID:

First reference: Artuso, R., Mencarelli, M.A., Polli, R., Sartori, S., Ariani, F., Pollazzon, M., Marozza, A., Cilio, M.R., Specchio, N., Vigevano, F., Vecchi, M., Boniver, C., Dalla Bernardina, B., Parmeggiani, A., Buoni, S., Hayek, G., Mari, F., Renieri, A., Murgia, A. (2010) Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain & Development 32:17-24. Pubmed ID: 19362436

Comments: highly conserved amino acid in catalytic domain; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

Variant last updated on: 2014-10-31 04:31:00

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.211A>G p.Asn71Asp Rett syndrome - early-onset seizure Female 19362436, Artuso et al (2010) cp338

Displaying a total number of 1 proband entries matching this variant.