ClinVar

NM_000335.5(SCN5A):c.5015T>A (p.Ile1672Asn)

Gene:

SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38551354 (on Assembly GRCh38)
• Chr3: 38592845 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5015T>A (p.Ile1672Asn)

HGVS:

• NC_000003.12:g.38551354A>T
• NG_008934.1:g.103319T>A
• NM_000335.5:c.5015T>AMANE SELECT
• NM_001099404.2:c.5018T>A
• NM_001099405.2:c.4964T>A
• NM_001160160.2:c.4919T>A
• NM_001160161.2:c.4856T>A
• NM_001354701.2:c.4961T>A
• NM_198056.3:c.5018T>A
• NP_000326.2:p.Ile1672Asn
• NP_000326.2:p.Ile1672Asn
• NP_001092874.1:p.Ile1673Asn
• NP_001092874.1:p.Ile1673Asn
• NP_001092875.1:p.Ile1655Asn
• NP_001153632.1:p.Ile1640Asn
• NP_001153633.1:p.Ile1619Asn
• NP_001341630.1:p.Ile1654Asn
• NP_932173.1:p.Ile1673Asn
• NP_932173.1:p.Ile1673Asn
• LRG_289t1:c.5018T>A
• LRG_289t2:c.5015T>A
• LRG_289t3:c.5018T>A
• LRG_289:g.103319T>A
• LRG_289p1:p.Ile1673Asn
• LRG_289p2:p.Ile1672Asn
• LRG_289p3:p.Ile1673Asn
• NC_000003.11:g.38592845A>T
• NM_000335.4:c.5015T>A
• NM_001099404.1:c.5018T>A
• NM_198056.2:c.5018T>A
• NR_176299.1:n.5764T>A

This HGVS expression did not pass validation

Protein change:

I1619N

Molecular consequence:

• NM_000335.5:c.5015T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5018T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4964T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.4919T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4856T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4961T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5018T>A - missense variant - [Sequence Ontology: SO:0001583]