ClinVar

NM_001127222.2(CACNA1A):c.4089+3G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13262731 (on Assembly GRCh38)
• Chr19: 13373545 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.4089+3G>A

HGVS:

• NC_000019.10:g.13262731C>T
• NG_011569.1:g.248730G>A
• NM_000068.4:c.4101+3G>A
• NM_001127221.2:c.4092+3G>A
• NM_001127222.2:c.4089+3G>AMANE SELECT
• NM_001174080.2:c.4092+3G>A
• NM_023035.3:c.4101+3G>A
• LRG_7t1:c.4092+3G>A
• LRG_7:g.248730G>A
• NC_000019.9:g.13373545C>T
• NM_001127221.1:c.4092+3G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs781595676

NCBI 1000 Genomes Browser:

rs781595676

Molecular consequence:

• NM_000068.4:c.4101+3G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127221.2:c.4092+3G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127222.2:c.4089+3G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001174080.2:c.4092+3G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_023035.3:c.4101+3G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2