ClinVar

NM_001298.3(CNGA3):c.1537G>A (p.Gly513Arg)

Gene:

CNGA3:cyclic nucleotide gated channel subunit alpha 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

• Chr2: 98396707 (on Assembly GRCh38)
• Chr2: 99013170 (on Assembly GRCh37)

Preferred name:

NM_001298.3(CNGA3):c.1537G>A (p.Gly513Arg)

HGVS:

• NC_000002.12:g.98396707G>A
• NG_009097.1:g.55553G>A
• NM_001079878.2:c.1483G>A
• NM_001298.3:c.1537G>AMANE SELECT
• NP_001073347.1:p.Gly495Arg
• NP_001289.1:p.Gly513Arg
• NC_000002.11:g.99013170G>A

This HGVS expression did not pass validation

Protein change:

G495R

Links:

dbSNP: rs764918448

NCBI 1000 Genomes Browser:

rs764918448

Molecular consequence:

• NM_001079878.2:c.1483G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001298.3:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]