CDC42 (NM_001791.4) sequence variants
(TKS, G25K, CDC42Hs)

Editor(s): Adriana ALMEIDA DE JESUS   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele

🔎

Total current number of sequence variants for CDC42 : 14

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

** If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 2
c.68A>G
p.(Tyr23Cys)
T23C
PathogenicTo be validated
 2021-01-112021-08-05
exon 4
c.191A>G
p.(Tyr64Cys)
Y64C
PathogenicTo be validated
 2021-01-112021-03-05
exon 6
c.556C>T
p.(Arg186Cys)
R186C
Likely pathogenicTo be validated
 2019-11-202021-02-18
exon 6
c.576A>C
p.(Ter192Cysext*24)
*192C*24
Likely pathogenicTo be validated
 2019-11-212020-11-24
exon 6
c.563G>A
p.(Cys188Tyr)
C188Y
Likely pathogenicTo be validated
 2019-11-202020-11-24
exon 5
c.476C>T
p.(Ala159Val)
A159V
PathogenicTo be validated
 2021-01-11 
exon 4
c.242G>T
p.(Cys81Phe)
C81F
PathogenicTo be validated
 2021-01-11 
exon 4
c.242G>A
p.(Cys81Tyr)
C81Y
Likely pathogenicTo be validated
 2020-06-02 
exon 6
c.511G>A
p.(Glu171Lys)
E171K
PathogenicTo be validated
 2021-01-11 
exon 2
c.62T>C
p.(Ile21Thr)
I21T
PathogenicTo be validated
 2021-01-11 
exon 2
c.101C>A
p.(Pro34Gln)
P34Q
Likely pathogenicTo be validated
 2021-04-17 
exon 4
c.196A>G
p.(Arg66Gly)
R66G
PathogenicTo be validated
 2021-01-11 
exon 4
c.203G>A
p.(Arg68Gln)
R68Q
PathogenicTo be validated
 2021-01-11 
exon 4
c.247T>C
p.(Ser83Pro)
S83P
PathogenicTo be validated
 2021-01-11