C173453Level 6
CHEK2 NM_007194.4:c.1283C>T
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A nucleotide substitution at position 1283 of the coding sequence of the CHEK2 gene where cytosine has been mutated to thymine.
**Synonyms:** - CDS1 c.1283C>T - CHEK2 c.1283C>T - CHK2 c.1283C>T - Checkpoint Kinase 2 c.1283C>T - LFS2 c.1283C>T - NM_007194.4:c.1283C>T - RAD53 c.1283C>T - hCds1 c.1283C>T
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