ClinVar

NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

• Chr15: 71811829 (on Assembly GRCh38)
• Chr15: 72104169 (on Assembly GRCh37)

Preferred name:

NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter)

HGVS:

• NC_000015.10:g.71811829C>A
• NG_009113.2:g.6275C>A
• NM_014249.4:c.309C>AMANE SELECT
• NM_016346.4:c.309C>A
• NP_055064.1:p.Cys103Ter
• NP_057430.1:p.Cys103Ter
• NC_000015.9:g.72104169C>A
• NM_014249.3:c.309C>A
• NM_014249.4:c.309C>A

This HGVS expression did not pass validation

Protein change:

C103*

Links:

dbSNP: rs955766374

NCBI 1000 Genomes Browser:

rs955766374

Molecular consequence:

• NM_014249.4:c.309C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_016346.4:c.309C>A - nonsense - [Sequence Ontology: SO:0001587]