Terminology Service for NFDI4Health

CYP2D6*19 Allele

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Human CYP2D6*19 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*19 protein. The CYP2D6*19 allele exhibits a four nucleotide deletion (g.2539delAACT) that results in a frameshift during protein coding. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*19 protein. [ ]

Term info

Label

CYP2D6*19 Allele

Synonyms
  • CYP2D6*19
  • CYP2D6*19 Allele
  • CYP2D6, g.2539delAACT
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*19 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Caucasian

Display Name

CYP2D6*19 Allele

Legacy Concept Name

CYP2D6_19_Allele

OMIM Number

124030

Preferred Name

CYP2D6*19 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707215

code

C46051