ClinVar

NM_001127222.2(CACNA1A):c.5068-49C>T

Gene:

CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13235323 (on Assembly GRCh38)
• Chr19: 13346137 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.5068-49C>T

HGVS:

• NC_000019.10:g.13235323G>A
• NG_011569.1:g.276138C>T
• NM_000068.4:c.5086-49C>T
• NM_001127221.2:c.5071-49C>T
• NM_001127222.2:c.5068-49C>TMANE SELECT
• NM_001174080.2:c.5077-49C>T
• NM_023035.3:c.5086-49C>T
• LRG_7:g.276138C>T
• NC_000019.9:g.13346137G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs373831178

NCBI 1000 Genomes Browser:

rs373831178

Molecular consequence:

• NM_000068.4:c.5086-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127221.2:c.5071-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127222.2:c.5068-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001174080.2:c.5077-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_023035.3:c.5086-49C>T - intron variant - [Sequence Ontology: SO:0001627]