Proband information


Proband id 6910
Systematic Name
(NM_004992.3:)		 c.1193A>C
Protein name
(NP_004983)		 p.Asp398Ala
Alternate systematic Name
(NM_001110792.1:)		 c.1229A>C
Alternate Protein name
(NP_001104262)		 p.(Asp410Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296086T>G
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection MPS
Extent
Source of DNA blood
Carrier NA
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1193A>C p.Asp398Ala Male Not Rett synd. 6910 :::