ClinVar

NM_000770.3(CYP2C8):c.1224C>A (p.Asp408Glu)

Gene:

CYP2C8:cytochrome P450 family 2 subfamily C member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

• Chr10: 95038964 (on Assembly GRCh38)
• Chr10: 96798721 (on Assembly GRCh37)

Preferred name:

NM_000770.3(CYP2C8):c.1224C>A (p.Asp408Glu)

HGVS:

• NC_000010.11:g.95038964G>T
• NG_007972.1:g.35534C>A
• NM_000770.3:c.1224C>AMANE SELECT
• NM_001198853.1:c.1014C>A
• NM_001198854.1:c.918C>A
• NM_001198855.1:c.1014C>A
• NP_000761.3:p.Asp408Glu
• NP_001185782.1:p.Asp338Glu
• NP_001185783.1:p.Asp306Glu
• NP_001185784.1:p.Asp338Glu
• NC_000010.10:g.96798721G>T

This HGVS expression did not pass validation

Protein change:

D306E

Molecular consequence:

• NM_000770.3:c.1224C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198853.1:c.1014C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198854.1:c.918C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198855.1:c.1014C>A - missense variant - [Sequence Ontology: SO:0001583]