Proband information


Proband id 6617
Systematic Name
(NM_004992.3:)		 c.914A>C
Protein name
(NP_004983)		 p.Lys305Thr
Alternate systematic Name
(NM_001110792.1:)		 c.950A>C
Alternate Protein name
(NP_001104262)		 p.(Lys317Thr)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296365T>G
Mutation type missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.914A>C p.Lys305Thr Female Rett syndrome-classical 6617 :::