ClinVar

NM_014434.4(NDOR1):c.979C>T (p.Arg327Trp)

Gene:

NDOR1:NADPH dependent diflavin oxidoreductase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137214932 (on Assembly GRCh38)
• Chr9: 140109384 (on Assembly GRCh37)

Preferred name:

NM_014434.4(NDOR1):c.979C>T (p.Arg327Trp)

HGVS:

• NC_000009.12:g.137214932C>T
• NM_001144026.3:c.979C>T
• NM_001144027.3:c.877C>T
• NM_001144028.3:c.979C>T
• NM_014434.4:c.979C>TMANE SELECT
• NP_001137498.1:p.Arg327Trp
• NP_001137499.1:p.Arg293Trp
• NP_001137500.1:p.Arg327Trp
• NP_055249.1:p.Arg327Trp
• NC_000009.11:g.140109384C>T
• NM_014434.2:c.979C>T

This HGVS expression did not pass validation

Protein change:

R293W

Molecular consequence:

• NM_001144026.3:c.979C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144027.3:c.877C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144028.3:c.979C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014434.4:c.979C>T - missense variant - [Sequence Ontology: SO:0001583]