Proband information


Proband id 6909
Systematic Name
(NM_004992.3:)
c.1316C>T
Protein name
(NP_004983)
p.Ala439Val
Alternate systematic Name
(NM_001110792.1:)
c.1352C>T
Alternate Protein name
(NP_001104262)
p.(Ala451Val)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295963G>A
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection MPS
Extent
Source of DNA blood
Carrier Y
Carrier result Asymptomatic mother carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/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.1316C>T p.Ala439Val Female Asymptomatic mother carrier Not Rett synd. 6909 :::