Proband information


Proband id 2484
Systematic Name
(NM_004992.3:)
c.317G>T
Protein name
(NP_004983)
p.Arg106Leu
Alternate systematic Name
(NM_001110792.1:)
c.353G>T
Alternate Protein name
(NP_001104262)
p.(Arg118Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297718C>A
Mutation type Missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection Direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Researcher claims neither parent has variation
Other mutations N
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.317G>T p.Arg106Leu Female Researcher claims neither parent has variation Rett syndrome-Classical 2484 :::