ClinVar

NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)

Gene:

CACNA1E:calcium voltage-gated channel subunit alpha1 E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.3

Genomic location:

• Chr1: 181651440 (on Assembly GRCh38)
• Chr1: 181620576 (on Assembly GRCh37)

Preferred name:

NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)

HGVS:

• NC_000001.11:g.181651440G>A
• NG_050616.1:g.173130G>A
• NM_000721.4:c.1054G>A
• NM_001205293.3:c.1054G>AMANE SELECT
• NM_001205294.2:c.1054G>A
• NP_000712.2:p.Gly352Arg
• NP_001192222.1:p.Gly352Arg
• NP_001192223.1:p.Gly352Arg
• NC_000001.10:g.181620576G>A
• NM_000721.3:c.1054G>A
• NM_001205293.1:c.1054G>A

This HGVS expression did not pass validation

Protein change:

G352R; GLY352ARG

Links:

OMIM: 601013.0005; dbSNP: rs886039323

NCBI 1000 Genomes Browser:

rs886039323

Molecular consequence:

• NM_000721.4:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001205293.3:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001205294.2:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1