ClinVar

NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr)

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: 42126611 (on Assembly GRCh38)
• Chr22: 42522613 (on Assembly GRCh37)

Preferred name:

NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr)

Other names:

CYP2D6*17

HGVS:

• NC_000022.11:g.42126611C>G
• NG_008376.4:g.9200G>C
• NM_000106.6:c.1457G>CMANE SELECT
• NM_001025161.3:c.1304G>C
• NP_000097.3:p.Ser486Thr
• NP_000097.3:p.Ser486Thr
• NP_001020332.2:p.Ser435Thr
• LRG_303t1:c.1457G>C
• LRG_303:g.9200G>C
• LRG_303p1:p.Ser486Thr
• NC_000022.10:g.42522613=
• NG_008376.2:g.9271G>C
• NG_008376.3:g.8381G>C
• NM_000106.5:c.1457G>C
• P10635:p.Ser486Thr

This HGVS expression did not pass validation

Protein change:

S435T; SER486THR

Links:

Medical Genetics Summaries: CYP2D6*17; UniProtKB: P10635#VAR_008341; OMIM: 124030.0007; dbSNP: rs1135840

NCBI 1000 Genomes Browser:

rs1135840

Molecular consequence:

• NM_000106.6:c.1457G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001025161.3:c.1304G>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Decreased function