CYP2C19*7 Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYP2C19*7 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*7 protein. The CYP2C19*7 allele exhibits a clinically-relevant SNP (c.IVS5+2T>A) in the invariant GT at the 5' donor splice site of intron 5 that results in a splicing defect. This alteration abolishes the enzymatic activity of the cytochrome P450 2C19*7 protein.

**Synonyms:** - CYP2C19*7 - CYP2C19, c.IVS5+2T>A - Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*7 Allele