ClinVar

NM_003889.4(NR1I2):c.124C>T (p.Arg42Cys)

Gene:

NR1I2:nuclear receptor subfamily 1 group I member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

• Chr3: 119807374 (on Assembly GRCh38)
• Chr3: 119526221 (on Assembly GRCh37)

Preferred name:

NM_003889.4(NR1I2):c.124C>T (p.Arg42Cys)

HGVS:

• NC_000003.12:g.119807374C>T
• NG_011856.1:g.31891C>T
• NG_011856.2:g.30275C>T
• NM_003889.4:c.124C>TMANE SELECT
• NM_022002.3:c.241C>T
• NM_033013.3:c.124C>T
• NP_003880.3:p.Arg42Cys
• NP_071285.1:p.Arg81Cys
• NP_148934.1:p.Arg42Cys
• NC_000003.11:g.119526221C>T
• NM_003889.3:c.124C>T

This HGVS expression did not pass validation

Protein change:

R42C

Molecular consequence:

• NM_003889.4:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022002.3:c.241C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033013.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]