ClinVar

NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

• Chr2: 98389721 (on Assembly GRCh38)
• Chr2: 99006184 (on Assembly GRCh37)

Preferred name:

NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter)

HGVS:

• NC_000002.12:g.98389721G>A
• NG_009097.1:g.48567G>A
• NM_001079878.2:c.459G>A
• NM_001298.3:c.513G>AMANE SELECT
• NP_001073347.1:p.Trp153Ter
• NP_001289.1:p.Trp171Ter
• NP_001289.1:p.Trp171Ter
• NC_000002.11:g.99006184G>A
• NM_001298.2:c.513G>A

This HGVS expression did not pass validation

Protein change:

W153*

Links:

dbSNP: rs762773298

NCBI 1000 Genomes Browser:

rs762773298

Molecular consequence:

• NM_001079878.2:c.459G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001298.3:c.513G>A - nonsense - [Sequence Ontology: SO:0001587]