ClinVar

NM_000106.6(CYP2D6):c.874G>A (p.Asp292Asn)

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: 42127953 (on Assembly GRCh38)
• Chr22: 42523955 (on Assembly GRCh37)

Preferred name:

NM_000106.6(CYP2D6):c.874G>A (p.Asp292Asn)

HGVS:

• NC_000022.11:g.42127953C>T
• NG_008376.3:g.7039G>A
• NG_008376.4:g.7858G>A
• NM_000106.6:c.874G>AMANE SELECT
• NM_001025161.3:c.721G>A
• NP_000097.3:p.Asp292Asn
• NP_001020332.2:p.Asp241Asn
• LRG_303t1:c.874G>A
• LRG_303:g.7858G>A
• LRG_303p1:p.Asp292Asn
• NC_000022.10:g.42523955C>T

This HGVS expression did not pass validation

Protein change:

D241N

Links:

dbSNP: rs1602571142

NCBI 1000 Genomes Browser:

rs1602571142

Molecular consequence:

• NM_000106.6:c.874G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001025161.3:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]