Proband information


Proband id 6642
Systematic Name
(NM_004992.3:)
c.1308_1309delTC
Protein name
(NP_004983)
p.Gln437fs
Alternate systematic Name
(NM_001110792.1:)
c.1344_1345delTC
Alternate Protein name
(NP_001104262)
p.(Gln449Alafs*49)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295970_153295971delGA
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
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.1308_1309delTC p.Gln437fs Female Rett syndrome-Not certain 1122 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
2 c.1308_1309delTC p.Gln437fs Female Rett syndrome-classical 6642 :::