ClinVar

NM_001379270.1(CNGA1):c.205A>G (p.Lys69Glu)

Genes:

CNGA1:cyclic nucleotide gated channel subunit alpha 1 [Gene - OMIM - HGNC]
LOC101927157:uncharacterized LOC101927157 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

4p12

Genomic location:

• Chr4: 47951372 (on Assembly GRCh38)
• Chr4: 47953389 (on Assembly GRCh37)

Preferred name:

NM_001379270.1(CNGA1):c.205A>G (p.Lys69Glu)

HGVS:

• NC_000004.12:g.47951372T>C
• NG_009193.1:g.66573A>G
• NM_000087.5:c.205A>G
• NM_001142564.2:c.205A>G
• NM_001375386.1:c.217A>G
• NM_001379270.1:c.205A>GMANE SELECT
• NP_000078.3:p.Lys69Glu
• NP_001136036.2:p.Lys69Glu
• NP_001362315.1:p.Lys73Glu
• NP_001366199.1:p.Lys69Glu
• NC_000004.11:g.47953389T>C

This HGVS expression did not pass validation

Protein change:

K69E

Molecular consequence:

• NM_000087.5:c.205A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142564.2:c.205A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375386.1:c.217A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379270.1:c.205A>G - missense variant - [Sequence Ontology: SO:0001583]