ClinVar

NM_001127222.2(CACNA1A):c.7242C>T (p.Asp2414=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13207592 (on Assembly GRCh38)
• Chr19: 13318406 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.7242C>T (p.Asp2414=)

HGVS:

• NC_000019.10:g.13207592G>A
• NG_011569.1:g.303869C>T
• NM_000068.4:c.*454C>T
• NM_001127221.2:c.*454C>T
• NM_001127222.2:c.7242C>TMANE SELECT
• NM_001174080.2:c.*454C>T
• NM_023035.3:c.7260C>T
• NP_001120694.1:p.Asp2414=
• NP_075461.2:p.Asp2420=
• LRG_7t1:c.*454C>T
• LRG_7:g.303869C>T
• NC_000019.9:g.13318406G>A
• NM_001127221.1:c.*454C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000068.4:c.*454C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001127221.2:c.*454C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001174080.2:c.*454C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001127222.2:c.7242C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_023035.3:c.7260C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1