Proband information


Proband id 4788
Systematic Name
(NM_004992.3:)		 c.153C>G
Protein name
(NP_004983)		 p.His51Gln
Alternate systematic Name
(NM_001110792.1:)		 c.189C>G
Alternate Protein name
(NP_001104262)		 p.(His63Gln)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297882G>C
Mutation type missense
Domain N-term
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection SSCP
Extent 80% of MECP2
Source of DNA blood
Carrier Y
Carrier result not in affected daughter, but male monozygotic twins died at day 1
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
Reference Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.153C>G p.His51Gln Female Not Rett synd. 4393 :Khajuria, R.::
2 c.153C>G p.His51Gln Female not in affected daughter, but male monozygotic twins died at day 1 Not Rett synd. 4788 Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488