ClinVar

NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp)

Gene:

CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

• Chr10: 94852738 (on Assembly GRCh38)
• Chr10: 96612495 (on Assembly GRCh37)

Preferred name:

NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp)

Other names:

CYP2C19*5

HGVS:

• NC_000010.11:g.94852738C>T
• NG_008384.3:g.95058C>T
• NM_000769.4:c.1297C>TMANE SELECT
• NP_000760.1:p.Arg433Trp
• NC_000010.10:g.96612495C>T
• NC_000010.10:g.96612495C>T

This HGVS expression did not pass validation

Protein change:

R433W; ARG433TRP

Links:

Genetic Testing Registry (GTR): GTR000613302; OMIM: 124020.0002; dbSNP: rs56337013

NCBI 1000 Genomes Browser:

rs56337013

Molecular consequence:

• NM_000769.4:c.1297C>T - missense variant - [Sequence Ontology: SO:0001583]