ClinVar

NM_001127222.2(CACNA1A):c.2393A>T (p.Asp798Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13299240 (on Assembly GRCh38)
• Chr19: 13410054 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.2393A>T (p.Asp798Val)

HGVS:

• NC_000019.10:g.13299240T>A
• NG_011569.1:g.212221A>T
• NM_000068.4:c.2405A>T
• NM_001127221.2:c.2396A>T
• NM_001127222.2:c.2393A>TMANE SELECT
• NM_001174080.2:c.2396A>T
• NM_023035.3:c.2405A>T
• NP_000059.3:p.Asp802Val
• NP_001120693.1:p.Asp799Val
• NP_001120693.1:p.Asp799Val
• NP_001120694.1:p.Asp798Val
• NP_001167551.1:p.Asp799Val
• NP_075461.2:p.Asp802Val
• LRG_7t1:c.2396A>T
• LRG_7:g.212221A>T
• LRG_7p1:p.Asp799Val
• NC_000019.9:g.13410054T>A
• NM_001127221.1:c.2396A>T

This HGVS expression did not pass validation

Protein change:

D798V

Links:

dbSNP: rs1060499675

NCBI 1000 Genomes Browser:

rs1060499675

Molecular consequence:

• NM_000068.4:c.2405A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127221.2:c.2396A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127222.2:c.2393A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174080.2:c.2396A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.2405A>T - missense variant - [Sequence Ontology: SO:0001583]