Proband information


Proband id 4469
Systematic Name
(NM_004992.3:)		 c.55C>T
Protein name
(NP_004983)		 p.Gln19*
Alternate systematic Name
(NM_001110792.1:)		 c.91C>T
Alternate Protein name
(NP_001104262)		 p.(Gln31*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297980G>A
Mutation type nonsense
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Known
Reference :Das, S., Dempsey, M. U. Chicago::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.55C>T p.Gln19* Female Neither parent has variation Rett syndrome-Atypical 1264 Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome:Kim, Soo-Jeong, Cook, Edwin H.:Human mutation: 10737989
2 c.55C>T p.Gln19* Female Not Known 4469 :Das, S., Dempsey, M. U. Chicago::