ClinVar

NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13262790 (on Assembly GRCh38)
• Chr19: 13373604 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter)

HGVS:

• NC_000019.10:g.13262790G>A
• NG_011569.1:g.248671C>T
• NM_000068.4:c.4045C>T
• NM_001127221.2:c.4036C>T
• NM_001127222.2:c.4033C>TMANE SELECT
• NM_001174080.2:c.4036C>T
• NM_023035.3:c.4045C>T
• NP_000059.3:p.Arg1349Ter
• NP_001120693.1:p.Arg1346Ter
• NP_001120693.1:p.Arg1346Ter
• NP_001120694.1:p.Arg1345Ter
• NP_001167551.1:p.Arg1346Ter
• NP_075461.2:p.Arg1349Ter
• LRG_7t1:c.4036C>T
• LRG_7:g.248671C>T
• LRG_7p1:p.Arg1346Ter
• NC_000019.9:g.13373604G>A
• NM_000068.2:c.4036C>T
• NM_001127221.1:c.4036C>T

This HGVS expression did not pass validation

Protein change:

R1345*

Links:

dbSNP: rs1568473233

NCBI 1000 Genomes Browser:

rs1568473233

Molecular consequence:

• NM_000068.4:c.4045C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127221.2:c.4036C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127222.2:c.4033C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001174080.2:c.4036C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_023035.3:c.4045C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1