Terminology Service for NFDI4Health

CYP2D6*13 Allele

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Human CYP2D6*13 allele, located in the vicinity of 22q13.1, is a variant form of the CYP2D6 wild-type allele and encodes cytochrome P450 2D6*13 protein. The CYP2D6*13 allele, resulting from large deletions (approximately 20 kb) in the CYP2D gene cluster, is a hybrid consisting of exon 1 of the CYP2D7 gene and exons 2-9 of the CYP2D6 gene. CYP2D6*13 allele exhibits an insertion in exon 1 which causes a reading frame shift. This alteration yields a truncated cytochrome P450 2D6*13 protein that is enzymatically inactive. [ ]

Term info

Label

CYP2D6*13 Allele

Synonyms
  • CYP2D6*13
  • CYP2D6*13 Allele
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*13 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Caucasian

Display Name

CYP2D6*13 Allele

Legacy Concept Name

CYP2D6_13_Allele

OMIM Number

124030

Preferred Name

CYP2D6*13 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707209

code

C46046