ClinVar

NM_001012720.2(RGR):c.481T>G (p.Cys161Gly)

Gene:

RGR:retinal G protein coupled receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.1

Genomic location:

• Chr10: 84252979 (on Assembly GRCh38)
• Chr10: 86012735 (on Assembly GRCh37)

Preferred name:

NM_001012720.2(RGR):c.481T>G (p.Cys161Gly)

HGVS:

• NC_000010.11:g.84252979T>G
• NG_009106.1:g.12927T>G
• NM_001012720.2:c.481T>GMANE SELECT
• NM_001012722.2:c.481T>G
• NM_002921.4:c.493T>G
• NP_001012738.1:p.Cys161Gly
• NP_001012740.1:p.Cys161Gly
• NP_002912.2:p.Cys165Gly
• NC_000010.10:g.86012735T>G

This HGVS expression did not pass validation

Protein change:

C161G

Molecular consequence:

• NM_001012720.2:c.481T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001012722.2:c.481T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002921.4:c.493T>G - missense variant - [Sequence Ontology: SO:0001583]