ClinVar

NM_201596.3(CACNB2):c.944+12A>T

Gene:

CACNB2:calcium voltage-gated channel auxiliary subunit beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.31

Genomic location:

• Chr10: 18518980 (on Assembly GRCh38)
• Chr10: 18807909 (on Assembly GRCh37)

Preferred name:

NM_201596.3(CACNB2):c.944+12A>T

HGVS:

• NC_000010.11:g.18518980A>T
• NG_016195.1:g.383304A>T
• NM_000724.4:c.779+12A>T
• NM_001167945.2:c.746+12A>T
• NM_001330060.2:c.665+12A>T
• NM_201570.3:c.800+12A>T
• NM_201571.4:c.860+12A>T
• NM_201572.4:c.788+12A>T
• NM_201590.3:c.782+12A>T
• NM_201593.3:c.830+12A>T
• NM_201596.3:c.944+12A>TMANE SELECT
• NM_201597.3:c.872+12A>T
• LRG_381t1:c.944+12A>T
• LRG_381t2:c.782+12A>T
• LRG_381:g.383304A>T
• NC_000010.10:g.18807909A>T
• NM_201590.2:c.782+12A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144304963

NCBI 1000 Genomes Browser:

rs144304963

Molecular consequence:

• NM_000724.4:c.779+12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001167945.2:c.746+12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330060.2:c.665+12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201570.3:c.800+12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201571.4:c.860+12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201572.4:c.788+12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201590.3:c.782+12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201593.3:c.830+12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201596.3:c.944+12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_201597.3:c.872+12A>T - intron variant - [Sequence Ontology: SO:0001627]