Proband information


Proband id 7042
Systematic Name
(NM_004992.3:)
c.1004_1173delinsCTGTGTAA
Protein name
(NP_004983)
p.Gly335_Ser486delinsAlaVal
Alternate systematic Name
(NM_001110792.1:)
c.1040_1209delinsCTGTGTAA
Alternate Protein name
(NP_001104262)
p.(Gly347_Ser498delinsAlaVal)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
NC_000023.10:g.153296106_153296275delins[NC_000008.10:50305003_50392184inv;TTACACAG]
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection WGS
Extent
Source of DNA
Carrier Y
Carrier result de novo mutation, parents are not carriers
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-classical
Reference :Beskorovainaya,Tatiana -Moscow ::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1004_1173delinsCTGTGTAA p.Gly335_Ser486delinsAlaVal Female de novo mutation, parents are not carriers Rett syndrome-classical 7042 :Beskorovainaya,Tatiana -Moscow ::