ClinVar

NM_000903.3(NQO1):c.559C>T (p.Pro187Ser)

Gene:

NQO1:NAD(P)H quinone dehydrogenase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 69711242 (on Assembly GRCh38)
• Chr16: 69745145 (on Assembly GRCh37)

Preferred name:

NM_000903.3(NQO1):c.559C>T (p.Pro187Ser)

HGVS:

• NC_000016.10:g.69711242G>A
• NG_011504.2:g.20389C>T
• NM_000903.2:c.559C>T
• NM_000903.3:c.559C>TMANE SELECT
• NM_001025433.2:c.457C>T
• NM_001025434.2:c.445C>T
• NM_001286137.2:c.343C>T
• NP_000894.1:p.Pro187Ser
• NP_001020604.1:p.Pro153Ser
• NP_001020605.1:p.Pro149Ser
• NP_001273066.1:p.Pro115Ser
• NC_000016.9:g.69745145G>A
• NG_011504.1:g.20389C>T
• P15559:p.Pro187Ser

This HGVS expression did not pass validation

Protein change:

P115S; PRO187SER

Links:

PharmGKB Clinical Annotation: 1183491004; UniProtKB: P15559#VAR_008384; OMIM: 125860.0001; dbSNP: rs1800566

NCBI 1000 Genomes Browser:

rs1800566

Molecular consequence:

• NM_000903.3:c.559C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001025433.2:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001025434.2:c.445C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286137.2:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]