ClinVar

NM_000726.5(CACNB4):c.*1185T>C

Gene:

CACNB4:calcium voltage-gated channel auxiliary subunit beta 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q23.3

Genomic location:

• Chr2: 151837934 (on Assembly GRCh38)
• Chr2: 152694448 (on Assembly GRCh37)

Preferred name:

NM_000726.5(CACNB4):c.*1185T>C

HGVS:

• NC_000002.12:g.151837934A>G
• NG_012641.1:g.266146T>C
• NM_000726.5:c.*1185T>CMANE SELECT
• NM_001005746.4:c.*1185T>C
• NM_001005747.4:c.*1185T>C
• NM_001145798.2:c.*1185T>C
• NM_001320722.3:c.*1185T>C
• NM_001330113.2:c.*1185T>C
• NM_001330114.2:c.*1185T>C
• NM_001330115.2:c.*1185T>C
• NM_001330116.2:c.*1185T>C
• NM_001330117.2:c.*1185T>C
• NM_001330118.1:c.*1185T>C
• NC_000002.11:g.152694448A>G
• NM_000726.3:c.*1185T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs13410490

NCBI 1000 Genomes Browser:

rs13410490

Molecular consequence:

• NM_000726.5:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001005746.4:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001005747.4:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001145798.2:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001320722.3:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001330113.2:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001330114.2:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001330115.2:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001330116.2:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001330117.2:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001330118.1:c.*1185T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]