rs398123003
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587784398
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587784399
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs730882187
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
CC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs730882188
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs796053290
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs796053290
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs796053290
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs886037619
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1556617455
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
|
18342287 |
2008 |
rs398124224
|
Entrez Id: |
10479 |
Gene Symbol: |
SLC9A6 |
SLC9A6
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation.
|
22541666 |
2013 |