ClinVar

NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13207393 (on Assembly GRCh38)
• Chr19: 13318207 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)

HGVS:

• NC_000019.10:g.13207393C>T
• NG_011569.1:g.304068G>A
• NM_000068.4:c.*653G>A
• NM_001127221.2:c.*653G>A
• NM_001127222.2:c.7441G>AMANE SELECT
• NM_001174080.2:c.*653G>A
• NM_023035.3:c.7459G>A
• NP_001120694.1:p.Gly2481Arg
• NP_075461.2:p.Gly2487Arg
• LRG_7:g.304068G>A
• NC_000019.9:g.13318207C>T
• NM_001127222.1:c.7441G>A

This HGVS expression did not pass validation

Protein change:

G2481R

Links:

dbSNP: rs765523382

NCBI 1000 Genomes Browser:

rs765523382

Molecular consequence:

• NM_000068.4:c.*653G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001127221.2:c.*653G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001174080.2:c.*653G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001127222.2:c.7441G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.7459G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2