CDKL5 Proband Entry
Entry ID: cp4
Systematic name: c.2047-1G>A
Protein name: p.Gly683Valfs*101
Alternate name(s): p.G683fs (r.2047delG)
Mutation type: splicing variant
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - atypical
Other mutation:
X-inactivation results: Yes - 85:15
Chromosomal abnormality: Not known
Method of testing: direct, exons 1-21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: not found in 236/236 chromosomes
dbSNP ID: rs267608650
Source: Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L.D., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J. (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:1079-1093. Pubmed ID: 15492925
Publication ID: Family 2, II:1
Comments:
Entry last updated on: 2018-06-05 13:45:42
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