ClinVar

NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13298641 (on Assembly GRCh38)
• Chr19: 13409455 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)

HGVS:

• NC_000019.10:g.13298641C>T
• NG_011569.1:g.212820G>A
• NM_000068.4:c.3004G>A
• NM_001127221.2:c.2995G>A
• NM_001127222.2:c.2992G>AMANE SELECT
• NM_001174080.2:c.2995G>A
• NM_023035.3:c.3004G>A
• NP_000059.3:p.Gly1002Arg
• NP_001120693.1:p.Gly999Arg
• NP_001120694.1:p.Gly998Arg
• NP_001167551.1:p.Gly999Arg
• NP_075461.2:p.Gly1002Arg
• LRG_7t1:c.2995G>A
• LRG_7:g.212820G>A
• NC_000019.9:g.13409455C>T
• NM_001127221.1:c.2995G>A

This HGVS expression did not pass validation

Protein change:

G1002R

Links:

dbSNP: rs781006387

NCBI 1000 Genomes Browser:

rs781006387

Molecular consequence:

• NM_000068.4:c.3004G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127221.2:c.2995G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127222.2:c.2992G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174080.2:c.2995G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.3004G>A - missense variant - [Sequence Ontology: SO:0001583]