ClinVar

NM_006186.4(NR4A2):c.289A>G (p.Met97Val)

Gene:

NR4A2:nuclear receptor subfamily 4 group A member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.1

Genomic location:

• Chr2: 156329898 (on Assembly GRCh38)
• Chr2: 157186410 (on Assembly GRCh37)

Preferred name:

NM_006186.4(NR4A2):c.289A>G (p.Met97Val)

HGVS:

• NC_000002.12:g.156329898T>C
• NG_011821.1:g.7878A>G
• NM_006186.3:c.289A>G
• NM_006186.4:c.289A>GMANE SELECT
• NM_173173.3:c.100A>G
• NP_006177.1:p.Met97Val
• NP_775265.1:p.Met34Val
• NC_000002.11:g.157186410T>C

This HGVS expression did not pass validation

Protein change:

M34V

Links:

dbSNP: rs143618355

NCBI 1000 Genomes Browser:

rs143618355

Molecular consequence:

• NM_006186.4:c.289A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173173.3:c.100A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1