Proband information


Proband id 1884
Systematic Name
(NM_004992.3:)		 c.341G>C
Protein name
(NP_004983)		 p.Gly114Ala
Alternate systematic Name
(NM_001110792.1:)		 c.377G>C
Alternate Protein name
(NP_001104262)		 p.(Gly126Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297694C>G
Mutation type Missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection Direct sequencing or DHPLC
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.341G>C p.Gly114Ala Female Neither parent has variation Rett syndrome-Not certain 1884 :::