ClinVar

NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13262781 (on Assembly GRCh38)
• Chr19: 13373595 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp)

HGVS:

• NC_000019.10:g.13262781G>A
• NG_011569.1:g.248680C>T
• NM_000068.4:c.4054C>T
• NM_001127221.2:c.4045C>T
• NM_001127222.2:c.4042C>TMANE SELECT
• NM_001174080.2:c.4045C>T
• NM_023035.3:c.4054C>T
• NP_000059.3:p.Arg1352Trp
• NP_001120693.1:p.Arg1349Trp
• NP_001120693.1:p.Arg1349Trp
• NP_001120694.1:p.Arg1348Trp
• NP_001167551.1:p.Arg1349Trp
• NP_075461.2:p.Arg1352Trp
• LRG_7t1:c.4045C>T
• LRG_7:g.248680C>T
• LRG_7p1:p.Arg1349Trp
• NC_000019.9:g.13373595G>A
• NM_001127221.1:c.4045C>T

This HGVS expression did not pass validation

Protein change:

R1348W

Links:

dbSNP: rs1064794858

NCBI 1000 Genomes Browser:

rs1064794858

Molecular consequence:

• NM_000068.4:c.4054C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127221.2:c.4045C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127222.2:c.4042C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174080.2:c.4045C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.4054C>T - missense variant - [Sequence Ontology: SO:0001583]