ClinVar

NM_000106.6(CYP2D6):c.521C>T (p.Pro174Leu)

Gene:

CYP2D6:cytochrome P450 family 2 subfamily D member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

• Chr22: 42128929 (on Assembly GRCh38)
• Chr22: 42524931 (on Assembly GRCh37)

Preferred name:

NM_000106.6(CYP2D6):c.521C>T (p.Pro174Leu)

HGVS:

• NC_000022.11:g.42128929G>A
• NG_008376.3:g.6063C>T
• NG_008376.4:g.6882C>T
• NM_000106.6:c.521C>TMANE SELECT
• NM_001025161.3:c.368C>T
• NP_000097.3:p.Pro174Leu
• NP_001020332.2:p.Pro123Leu
• LRG_303t1:c.521C>T
• LRG_303:g.6882C>T
• LRG_303p1:p.Pro174Leu
• NC_000022.10:g.42524931G>A

This HGVS expression did not pass validation

Protein change:

P123L

Links:

dbSNP: rs1602578555

NCBI 1000 Genomes Browser:

rs1602578555

Molecular consequence:

• NM_000106.6:c.521C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001025161.3:c.368C>T - missense variant - [Sequence Ontology: SO:0001583]