CHEK2 p.S428F (c.1283C>T)

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Anonymous
Anonymous Member Posts: 1,376
edited August 2020 in Genetic Testing
CHEK2 p.S428F (c.1283C>T)
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  • Lumpykins
    Lumpykins Member Posts: 14
    edited August 2020

    One of my docs (I forget which one) has described CHEK2 as the most common of the rare variants. However, any info I can find online focuses on the 1100 del. C type, but I was diagnosed with CHEK2 p.S428F (c.1283C>T). Pretty catchy name, right?

    Looking for anyone else with the same version of this genetic variant or any information about it.


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