ClinVar

NM_015981.4(CAMK2A):c.*17C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 150222693 (on Assembly GRCh38)
• Chr5: 149602256 (on Assembly GRCh37)

Preferred name:

NM_015981.4(CAMK2A):c.*17C>T

HGVS:

• NC_000005.10:g.150222693G>A
• NG_047040.1:g.72148C>T
• NM_001363989.1:c.*17C>T
• NM_001363990.1:c.*17C>T
• NM_001369025.2:c.*46C>T
• NM_015981.4:c.*17C>TMANE SELECT
• NM_171825.3:c.*17C>T
• NC_000005.9:g.149602256G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001363989.1:c.*17C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001363990.1:c.*17C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001369025.2:c.*46C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_015981.4:c.*17C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_171825.3:c.*17C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

1