ClinVar

NM_006186.4(NR4A2):c.308A>G (p.His103Arg)

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: 156329879 (on Assembly GRCh38)
• Chr2: 157186391 (on Assembly GRCh37)

Preferred name:

NM_006186.4(NR4A2):c.308A>G (p.His103Arg)

HGVS:

• NC_000002.12:g.156329879T>C
• NG_011821.1:g.7897A>G
• NM_006186.4:c.308A>GMANE SELECT
• NM_173173.3:c.119A>G
• NP_006177.1:p.His103Arg
• NP_775265.1:p.His40Arg
• NC_000002.11:g.157186391T>C

This HGVS expression did not pass validation

Protein change:

H103R

Links:

dbSNP: rs199674295

NCBI 1000 Genomes Browser:

rs199674295

Molecular consequence:

• NM_006186.4:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173173.3:c.119A>G - missense variant - [Sequence Ontology: SO:0001583]