ClinVar

NM_000726.5(CACNB4):c.-25G>T

Genes:

LOC129934925:ATAC-STARR-seq lymphoblastoid silent region 12010 [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: 152099036 (on Assembly GRCh38)
• Chr2: 152955550 (on Assembly GRCh37)

Preferred name:

NM_000726.5(CACNB4):c.-25G>T

HGVS:

• NC_000002.12:g.152099036C>A
• NG_012641.1:g.5044G>T
• NM_000726.5:c.-25G>TMANE SELECT
• NM_001145798.2:c.-25G>T
• NC_000002.11:g.152955550C>A
• NM_000726.2:c.-25G>T
• NM_000726.3:c.-25G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143675846

NCBI 1000 Genomes Browser:

rs143675846

Molecular consequence:

• NM_000726.5:c.-25G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001145798.2:c.-25G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]