ClinVar

NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13235693 (on Assembly GRCh38)
• Chr19: 13346507 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)

HGVS:

• NC_000019.10:g.13235693C>T
• NG_011569.1:g.275768G>A
• NM_000068.4:c.5006G>A
• NM_001127221.2:c.4991G>A
• NM_001127222.2:c.4988G>AMANE SELECT
• NM_001174080.2:c.4997G>A
• NM_023035.3:c.5006G>A
• NP_000059.3:p.Arg1669Gln
• NP_001120693.1:p.Arg1664Gln
• NP_001120693.1:p.Arg1664Gln
• NP_001120694.1:p.Arg1663Gln
• NP_001167551.1:p.Arg1666Gln
• NP_075461.2:p.Arg1669Gln
• LRG_7t1:c.4991G>A
• LRG_7:g.275768G>A
• LRG_7p1:p.Arg1664Gln
• NC_000019.9:g.13346507C>T
• NM_000068.2:c.4991G>A
• NM_001127221.1:c.4991G>A
• NM_001127221.2:c.4991G>A
• NM_023035.2:c.5006G>A

This HGVS expression did not pass validation

Protein change:

R1663Q

Links:

UniProtKB/Swiss-Prot: VAR_063691; dbSNP: rs121908247

NCBI 1000 Genomes Browser:

rs121908247

Molecular consequence:

• NM_000068.4:c.5006G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127221.2:c.4991G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127222.2:c.4988G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174080.2:c.4997G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.5006G>A - missense variant - [Sequence Ontology: SO:0001583]