ClinVar

NM_015981.4(CAMK2A):c.1406G>A (p.Arg469Gln)

Gene:

CAMK2A:calcium/calmodulin dependent protein kinase II alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 150223049 (on Assembly GRCh38)
• Chr5: 149602612 (on Assembly GRCh37)

Preferred name:

NM_015981.4(CAMK2A):c.1406G>A (p.Arg469Gln)

HGVS:

• NC_000005.10:g.150223049C>T
• NG_047040.1:g.71792G>A
• NM_001363989.1:c.1406G>A
• NM_001363990.1:c.1373G>A
• NM_001369025.2:c.1373G>A
• NM_015981.4:c.1406G>AMANE SELECT
• NM_171825.3:c.1373G>A
• NP_001350918.1:p.Arg469Gln
• NP_001350919.1:p.Arg458Gln
• NP_001355954.1:p.Arg458Gln
• NP_057065.2:p.Arg469Gln
• NP_741960.1:p.Arg458Gln
• NC_000005.9:g.149602612C>T
• NM_015981.3:c.1406G>A

This HGVS expression did not pass validation

Protein change:

R458Q

Molecular consequence:

• NM_001363989.1:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363990.1:c.1373G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369025.2:c.1373G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015981.4:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_171825.3:c.1373G>A - missense variant - [Sequence Ontology: SO:0001583]