ClinVar

NM_000335.5(SCN5A):c.4787T>C (p.Val1596Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38554302 (on Assembly GRCh38)
• Chr3: 38595793 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4787T>C (p.Val1596Ala)

HGVS:

• NC_000003.12:g.38554302A>G
• NG_008934.1:g.100371T>C
• NM_000335.5:c.4787T>CMANE SELECT
• NM_001099404.2:c.4790T>C
• NM_001099405.2:c.4736T>C
• NM_001160160.2:c.4714+73T>C
• NM_001160161.2:c.4628T>C
• NM_001354701.2:c.4733T>C
• NM_198056.3:c.4790T>C
• NP_000326.2:p.Val1596Ala
• NP_000326.2:p.Val1596Ala
• NP_001092874.1:p.Val1597Ala
• NP_001092874.1:p.Val1597Ala
• NP_001092875.1:p.Val1579Ala
• NP_001153633.1:p.Val1543Ala
• NP_001341630.1:p.Val1578Ala
• NP_932173.1:p.Val1597Ala
• NP_932173.1:p.Val1597Ala
• LRG_289t1:c.4790T>C
• LRG_289t2:c.4787T>C
• LRG_289t3:c.4790T>C
• LRG_289:g.100371T>C
• LRG_289p1:p.Val1597Ala
• LRG_289p2:p.Val1596Ala
• LRG_289p3:p.Val1597Ala
• NC_000003.11:g.38595793A>G
• NM_000335.4:c.4787T>C
• NM_001099404.1:c.4790T>C
• NM_198056.2:c.4790T>C
• NR_176299.1:n.5536T>C

This HGVS expression did not pass validation

Protein change:

V1543A

Molecular consequence:

• NM_001160160.2:c.4714+73T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000335.5:c.4787T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4790T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4628T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4733T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4790T>C - missense variant - [Sequence Ontology: SO:0001583]