ClinVar

NM_000106.6(CYP2D6):c.812T>C (p.Leu271Pro)

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: 42128205 (on Assembly GRCh38)
• Chr22: 42524207 (on Assembly GRCh37)

Preferred name:

NM_000106.6(CYP2D6):c.812T>C (p.Leu271Pro)

HGVS:

• NC_000022.11:g.42128205A>G
• NG_008376.3:g.6787T>C
• NG_008376.4:g.7606T>C
• NM_000106.6:c.812T>CMANE SELECT
• NM_001025161.3:c.659T>C
• NP_000097.3:p.Leu271Pro
• NP_001020332.2:p.Leu220Pro
• LRG_303t1:c.812T>C
• LRG_303:g.7606T>C
• LRG_303p1:p.Leu271Pro
• NC_000022.10:g.42524207A>G

This HGVS expression did not pass validation

Protein change:

L220P

Links:

dbSNP: rs1602573074

NCBI 1000 Genomes Browser:

rs1602573074

Molecular consequence:

• NM_000106.6:c.812T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001025161.3:c.659T>C - missense variant - [Sequence Ontology: SO:0001583]