Proband information


Proband id 6901
Systematic Name
(NM_004992.3:)		 c.1417G>C
Protein name
(NP_004983)		 p.(Glu473Gln)
Alternate systematic Name
(NM_001110792.1:)		 c.1453G>C
Alternate Protein name
(NP_001104262)		 p.(Glu485Gln)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295862C>G
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection MPS
Extent
Source of DNA blood
Carrier Y
Carrier result unaffected mother is a carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1417G>C p.(Glu473Gln) Male unaffected mother is a carrier Not Rett synd. 6901 :::