ClinVar

NM_014249.4(NR2E3):c.150C>T (p.Cys50=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

• Chr15: 71811514 (on Assembly GRCh38)
• Chr15: 72103854 (on Assembly GRCh37)

Preferred name:

NM_014249.4(NR2E3):c.150C>T (p.Cys50=)

HGVS:

• NC_000015.10:g.71811514C>T
• NG_009113.2:g.5960C>T
• NM_014249.4:c.150C>TMANE SELECT
• NM_016346.4:c.150C>T
• NP_055064.1:p.Cys50=
• NP_057430.1:p.Cys50=
• NC_000015.9:g.72103854C>T
• NM_014249.3:c.150C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs376753500

NCBI 1000 Genomes Browser:

rs376753500

Molecular consequence:

• NM_014249.4:c.150C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016346.4:c.150C>T - synonymous variant - [Sequence Ontology: SO:0001819]