ClinVar

NM_015981.4(CAMK2A):c.1047C>T (p.Ile349=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 150238719 (on Assembly GRCh38)
• Chr5: 149618282 (on Assembly GRCh37)

Preferred name:

NM_015981.4(CAMK2A):c.1047C>T (p.Ile349=)

HGVS:

• NC_000005.10:g.150238719G>A
• NG_047040.1:g.56122C>T
• NM_001363989.1:c.1047C>T
• NM_001363990.1:c.1014C>T
• NM_001369025.2:c.1014C>T
• NM_015981.4:c.1047C>TMANE SELECT
• NM_171825.3:c.1014C>T
• NP_001350918.1:p.Ile349=
• NP_001350919.1:p.Ile338=
• NP_001355954.1:p.Ile338=
• NP_057065.2:p.Ile349=
• NP_741960.1:p.Ile338=
• NC_000005.9:g.149618282G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001363989.1:c.1047C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363990.1:c.1014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369025.2:c.1014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015981.4:c.1047C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_171825.3:c.1014C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1