Proband information


Proband id 3526
Systematic Name
(NM_004992.3:)
c.364G>A
Protein name
(NP_004983)
p.Val122Met
Alternate systematic Name
(NM_001110792.1:)
c.400G>A
Alternate Protein name
(NP_001104262)
p.(Val134Met)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297671C>T
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent all exons
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.364G>A p.Val122Met Female de novo Rett syndrome-not certain 3526 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