OCNDS Dashboard

OCNDS DASHBOARD 

Welcome to the OCNDS Dashboard. Here we will provide updates from the OCNDS Registry.

Last updated: April 25, 2024

CSNK2A1 variants represented and number of individuals with indicated variants in numerical order:

Variant Count
p.M1?

2

p.S5IT

1
p.A9PfsTer37

1
p.N16I

1
p.H18Dfs*27

1
p.R21X

1
p.E27K

1
p.E32DfsX14

1
p.R47G

1
p.R47Q

17
p.G48S

2
p.Y50C

8
p.Y50dup

1
p.Y50N

1
p.Y50S

1
p.S51N

1
p.S51R

4
p.E52K

1
p.V53L

1
p.V66L

1
p.L70R

1
p.L70P

1
p.V73E

1
p.K79*

1
p.R80H

3
p.I100CfsTer14

1
p.P104Lfs*13

1
p.Y125?

1
p.R134Ter

3
p.H154Qfs*7

1
p.D156E

3
p.D156H

1
p.D156N

2
p.D156Q

1
p.D156Y

1
p.K158R

3
p.H160R

7
p.N161H

2
p.R169*

1
p.R172*

1
p.I174M

1
p.D175A

1
p.D175G

2
p.D175H

1
p.D175N

1
p.D175V

1
p.G177D

2
p.G177S

4
p.E180K

2
p.R180c

1
p.R191P

2
p.R191Q

1
p.A193P

2
p.S194F

4
p.S194P

1
p.R195P

1
p.R195Q

1
p.R195X

1
p.Y196C

1
p.K198R

67
p.D214V

1

p.S217N

4
p.A223E

1
p.R228Sfs*10

1
p.E230X

1
p.P231L

1
p.E234G

1
p.Y261*

2
p.E264D

1
p.R278Kfs*10

1
p.R278*

1
p.R278Ter

1
p.E282K

1
p.R306*

2
p.Y307X

1
p.R312Q

2
p.R312W

5
p.Q390*

1

This figure from Unni et. al., Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases, shows a protein diagram including the location of some CSNK2A1 variants. The foundation is working on making a similar figure that includes all the variants in our registry.

A diagram showing the structure of a protein

Countries Represented:

Country Count
Albania

1
Australia

7
Austria

1
Belgium

4
Brasil 14
Bulgaria

1
Canada 14
China

5
Colombia

1
Denmark

2
Ecuador

1
Finland

1
France

10
Germany

8
Hong Kong

2
India

1
Ireland

6
Israel

2
Italy

10
Korea

1
Malaysia

2
Netherlands

5
New Zealand

2
Norway

1
Poland

2
Portugal

5
România

1
Slovenia

2
Spain

5
Sweden

1
Switzerland

2
Taiwan

2
UAD

1
UK 20
USA

100

Languages Represented:

Country Count
Albanian

1
Arabic

1
Bulgarian

1
Danish

1
Dutch

11
English

150
Finnish

1
French

17
German

7
Hebrew

2
Italian

10
Korean

1
Mandarin

9
Norwegian

2
Persian

1
Polish

5
Portuguese

16
Romanian

1
Spanish

9
Swedish

1

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