ClinVar

NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

• Chr2: 98396449 (on Assembly GRCh38)
• Chr2: 99012912 (on Assembly GRCh37)

Preferred name:

NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)

HGVS:

• NC_000002.12:g.98396449C>T
• NG_009097.1:g.55295C>T
• NM_001079878.2:c.1225C>T
• NM_001298.3:c.1279C>TMANE SELECT
• NP_001073347.1:p.Arg409Cys
• NP_001289.1:p.Arg427Cys
• NP_001289.1:p.Arg427Cys
• NC_000002.11:g.99012912C>T
• NM_001298.2:c.1279C>T
• p.Arg427Cys

This HGVS expression did not pass validation

Protein change:

R409C

Links:

dbSNP: rs141386891

NCBI 1000 Genomes Browser:

rs141386891

Molecular consequence:

• NM_001079878.2:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001298.3:c.1279C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1