Proband information


Proband id 3910
Systematic Name
(NM_004992.3:)
c.[455C>G(;)683C>G]
Protein name
(NP_004983)
p.[Pro152Arg(;)Thr228Ser]
Alternate systematic Name
(NM_001110792.1:)
c.[491C>G;719C>G]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296824G>C;153296596G>C]
Mutation type missense
Domain MBD, TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 50 chromosomes tested and not found in 50 chromosomes
Detection SSCP
Extent 90% coding region
Source of DNA blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :Khajuria, R.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[455C>G(;)683C>G] p.[Pro152Arg(;)Thr228Ser] Female Rett syndrome-classical 3910 :Khajuria, R.::