rs864309721
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
0.820
GeneticVariation
UNIPROT
Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
26708094
2016
rs864309721
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
0.820
GeneticVariation
BEFREE
Thus, despite the heterozygous mutation of CDC42 (p.Tyr64Cys ) likely being a hot-spot mutation for TKS , its phenotype may be variable.
29335451
2018
rs864309721
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
G
0.820
CausalMutation
CLINVAR
rs864309721
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
G
0.820
GeneticVariation
CLINVAR
rs864309721
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
0.820
GeneticVariation
UNIPROT
Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.
26386261
2015
rs864309721
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
0.820
GeneticVariation
BEFREE
The combined phenotype of thrombocytopenia accompanied by intellectual disability in patients with a de novo heterozygous mutation, i.e., p.Tyr64Cys in CDC42, signifies a clinically recognizable novel syndrome that has been eponymized as "Takenouchi-Kosaki syndrome " (OMIM #616737).
30872706
2019
rs1064795845
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
C
0.700
CausalMutation
CLINVAR
rs1553196100
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
T
0.700
CausalMutation
CLINVAR
rs1553196101
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
C
0.700
CausalMutation
CLINVAR
rs1553196539
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
A
0.700
CausalMutation
CLINVAR
rs797044870
×
Entrez Id:
998
Gene Symbol:
CDC42
CDC42
TAKENOUCHI-KOSAKI SYNDROME
G
0.700
CausalMutation
CLINVAR