ClinVar

NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13298806 (on Assembly GRCh38)
• Chr19: 13409620 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys)

HGVS:

• NC_000019.10:g.13298806G>A
• NG_011569.1:g.212655C>T
• NM_000068.4:c.2839C>T
• NM_001127221.2:c.2830C>T
• NM_001127222.2:c.2827C>TMANE SELECT
• NM_001174080.2:c.2830C>T
• NM_023035.3:c.2839C>T
• NP_000059.3:p.Arg947Cys
• NP_001120693.1:p.Arg944Cys
• NP_001120693.1:p.Arg944Cys
• NP_001120694.1:p.Arg943Cys
• NP_001167551.1:p.Arg944Cys
• NP_075461.2:p.Arg947Cys
• LRG_7t1:c.2830C>T
• LRG_7:g.212655C>T
• LRG_7p1:p.Arg944Cys
• NC_000019.9:g.13409620G>A
• NM_001127221.1:c.2830C>T

This HGVS expression did not pass validation

Protein change:

R943C

Links:

dbSNP: rs754979047

NCBI 1000 Genomes Browser:

rs754979047

Molecular consequence:

• NM_000068.4:c.2839C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127221.2:c.2830C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127222.2:c.2827C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174080.2:c.2830C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.2839C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1