ClinVar

NM_000901.5(NR3C2):c.*86T>C

Gene:

NR3C2:nuclear receptor subfamily 3 group C member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.23

Genomic location:

• Chr4: 148081258 (on Assembly GRCh38)
• Chr4: 149002409 (on Assembly GRCh37)

Preferred name:

NM_000901.5(NR3C2):c.*86T>C

HGVS:

• NC_000004.12:g.148081258A>G
• NG_013350.1:g.366264T>C
• NM_000901.5:c.*86T>CMANE SELECT
• NM_001166104.2:c.*86T>C
• NM_001354819.1:c.*86T>C
• NC_000004.11:g.149002409A>G
• NM_000901.4:c.*86T>C
• NR_148974.2:n.2802T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs5530

NCBI 1000 Genomes Browser:

rs5530

Molecular consequence:

• NM_000901.5:c.*86T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001166104.2:c.*86T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354819.1:c.*86T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_148974.2:n.2802T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]