Proband information


Proband id 446
Systematic Name
(NM_004992.3:)		 c.[806delG(;) *8C>T]
Protein name
(NP_004983)		 p.Gly269fs
Alternate systematic Name
(NM_001110792.1:)		 c.[842delG;*8C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296473delC;153295810G>A]
Mutation type frameshift insertion or deletion, 3'UTR variation
Domain TRD-NLS, 3'UTR
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is carrier of 1459+10 C>T only (unless mosaic), Father is not carrier (unless mosaic), normal brother is carrier of 1459+10 C>T only
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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.[806delG(;) *8C>T] p.Gly269fs Female Mother is carrier of 1459+10 C>T only (unless mosaic), Father is not carrier (unless mosaic), normal brother is carrier of 1459+10 C>T only Rett syndrome-Classical 446 :::