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.
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 |
We are focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives. CSNK2A1 Foundation is operated and funded through a committed team of volunteers, advocates and researchers.
We are a 501(c)(3) non-profit organization. EIN #82-4220939.
© 2023 CSNK2A1 Foundation
1929 Van Ness Avenue
San Francisco, CA 94109
(415) 483-2488
The information provided is not intended to be a substitute for professional medical advice, diagnosis or treatment. Never disregard professional medical advice, or delay in seeking it, because of something you have read on this website. Read more...
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