ClinVar

NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

• Chr15: 71811591 (on Assembly GRCh38)
• Chr15: 72103931 (on Assembly GRCh37)

Preferred name:

NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)

HGVS:

• NC_000015.10:g.71811591G>A
• NG_009113.2:g.6037G>A
• NM_014249.4:c.227G>AMANE SELECT
• NM_016346.4:c.227G>A
• NP_055064.1:p.Arg76Gln
• NP_057430.1:p.Arg76Gln
• NC_000015.9:g.72103931G>A
• NM_014249.2:c.227G>A
• NM_014249.3:c.227G>A
• Q9Y5X4:p.Arg76Gln

This HGVS expression did not pass validation

Protein change:

R76Q; ARG76GLN

Links:

UniProtKB: Q9Y5X4#VAR_009266; OMIM: 604485.0003; dbSNP: rs104894493

NCBI 1000 Genomes Browser:

rs104894493

Molecular consequence:

• NM_014249.4:c.227G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016346.4:c.227G>A - missense variant - [Sequence Ontology: SO:0001583]