ClinVar

NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13262792 (on Assembly GRCh38)
• Chr19: 13373606 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)

HGVS:

• NC_000019.10:g.13262792A>G
• NG_011569.1:g.248669T>C
• NM_000068.4:c.4043T>C
• NM_001127221.1:c.4034T>C
• NM_001127221.2:c.4034T>C
• NM_001127222.2:c.4031T>CMANE SELECT
• NM_001174080.2:c.4034T>C
• NM_023035.3:c.4043T>C
• NP_000059.3:p.Leu1348Pro
• NP_001120693.1:p.Leu1345Pro
• NP_001120694.1:p.Leu1344Pro
• NP_001167551.1:p.Leu1345Pro
• NP_075461.2:p.Leu1348Pro
• LRG_7t1:c.4034T>C
• LRG_7:g.248669T>C
• NC_000019.9:g.13373606A>G

This HGVS expression did not pass validation

Protein change:

L1344P

Links:

dbSNP: rs2144773045

NCBI 1000 Genomes Browser:

rs2144773045

Molecular consequence:

• NM_000068.4:c.4043T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127221.2:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127222.2:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174080.2:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.4043T>C - missense variant - [Sequence Ontology: SO:0001583]