ClinVar

CYP2C9*2

Gene:

CYP2C9:cytochrome P450 family 2 subfamily C member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

• Chr10: 94942290 (on Assembly GRCh38)
• Chr10: 96702047 (on Assembly GRCh37)

Preferred name:

CYP2C9*2

Other names:

NM_000771.3(CYP2C9):c.430C>T (p.Arg144Cys); 430C>T

HGVS:

• NC_000010.11:g.94942290C>T
• NG_008385.2:g.9133C>T
• NM_000771.4:c.430C>TMANE SELECT
• NP_000762.2:p.Arg144Cys
• LRG_1195t1:c.430C>T
• LRG_1195:g.9133C>T
• LRG_1195p1:p.Arg144Cys
• NC_000010.10:g.96702047C>T
• NG_008385.1:g.8633C>T
• NM_000771.3:c.430C>T
• P11712:p.Arg144Cys

This HGVS expression did not pass validation

Protein change:

R144C; Arg144Cys

Links:

Medical Genetics Summaries: CYP2C9*2; PharmGKB Clinical Annotation: 637879781; UniProtKB: P11712#VAR_008343; OMIM: 601130.0002; dbSNP: rs1799853

NCBI 1000 Genomes Browser:

rs1799853

Molecular consequence:

• NM_000771.4:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

173