ClinVar

NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13371744 (on Assembly GRCh38)
• Chr19: 13482558 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)

HGVS:

• NC_000019.10:g.13371744C>T
• NG_011569.1:g.139717G>A
• NM_000068.4:c.575G>A
• NM_001127221.2:c.575G>A
• NM_001127222.2:c.575G>AMANE SELECT
• NM_001174080.2:c.575G>A
• NM_023035.3:c.575G>A
• NP_000059.3:p.Arg192Gln
• NP_001120693.1:p.Arg192Gln
• NP_001120693.1:p.Arg192Gln
• NP_001120694.1:p.Arg192Gln
• NP_001167551.1:p.Arg192Gln
• NP_075461.2:p.Arg192Gln
• LRG_7t1:c.575G>A
• LRG_7:g.139717G>A
• LRG_7p1:p.Arg192Gln
• NC_000019.9:g.13482558C>T
• NM_001127221.1:c.575G>A

This HGVS expression did not pass validation

Protein change:

R192Q; ARG192GLN

Links:

UniProtKB/Swiss-Prot: VAR_001491; OMIM: 601011.0001; dbSNP: rs121908211

NCBI 1000 Genomes Browser:

rs121908211

Molecular consequence:

• NM_000068.4:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127221.2:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127222.2:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174080.2:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]