ClinVar

NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys)

Gene:

NR2E3:nuclear receptor subfamily 2 group E member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

• Chr15: 71811809 (on Assembly GRCh38)
• Chr15: 72104149 (on Assembly GRCh37)

Preferred name:

NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys)

HGVS:

• NC_000015.10:g.71811809C>T
• NG_009113.2:g.6255C>T
• NM_014249.4:c.289C>TMANE SELECT
• NM_016346.4:c.289C>T
• NP_055064.1:p.Arg97Cys
• NP_057430.1:p.Arg97Cys
• NC_000015.9:g.72104149C>T
• NC_000015.9:g.72104149C>T
• NM_014249.3:c.289C>T

This HGVS expression did not pass validation

Protein change:

R97C

Links:

dbSNP: rs775720634

NCBI 1000 Genomes Browser:

rs775720634

Molecular consequence:

• NM_014249.4:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016346.4:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]