Proband information


Proband id 3913
Systematic Name
(NM_004992.3:)		 c.471C>G
Protein name
(NP_004983)		 p.Phe157Leu
Alternate systematic Name
(NM_001110792.1:)		 c.507C>G
Alternate Protein name
(NP_001104262)		 p.(Phe169Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296808G>C
Mutation type missense
Domain MBD
Pathogenicity Unknown
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.471C>G p.Phe157Leu Female Rett syndrome-classical 3913 :Khajuria, R.::