Proband information


Proband id 6589
Systematic Name
(NM_004992.3:)		 c.[518C>G(;)678delT]
Protein name
(NP_004983)		 p.[Pro173Arg(;)Gln227fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[554C>G;714delT]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296761G>C;153296601delA]
Mutation type missense
Domain inter-domain, TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
Carrier result Q227fs de novo, P173R found in unaffected mother
Other mutations Y
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.[518C>G(;)678delT] p.[Pro173Arg(;)Gln227fs] Female Q227fs de novo, P173R found in unaffected mother Rett syndrome-classical 6589 :::