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. 2022 Jun 9;13:816476. doi: 10.3389/fendo.2022.816476

Table 1.

Novel CaV3.2 calcium channel mutation identified in uPA by next-generation sequencing.

Gene mutation Chr Ref Alt Amino acid change (NM_021098.3) ACMG Classification
CACNA1H somatic 16 G A Val1937Met likely pathogenic

Alt, alternative allele; Chr, chromosome; ACMG, American College of Medical Genetics and Genomics.