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.