ClinVar

NM_000335.5(SCN5A):c.4786G>A (p.Val1596Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38554303 (on Assembly GRCh38)
• Chr3: 38595794 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4786G>A (p.Val1596Met)

HGVS:

• NC_000003.12:g.38554303C>T
• NG_008934.1:g.100370G>A
• NM_000335.5:c.4786G>AMANE SELECT
• NM_001099404.2:c.4789G>A
• NM_001099405.2:c.4735G>A
• NM_001160160.2:c.4714+72G>A
• NM_001160161.2:c.4627G>A
• NM_001354701.2:c.4732G>A
• NM_198056.3:c.4789G>A
• NP_000326.2:p.Val1596Met
• NP_001092874.1:p.Val1597Met
• NP_001092875.1:p.Val1579Met
• NP_001153633.1:p.Val1543Met
• NP_001341630.1:p.Val1578Met
• NP_932173.1:p.Val1597Met
• NP_932173.1:p.Val1597Met
• LRG_289t1:c.4789G>A
• LRG_289:g.100370G>A
• LRG_289p1:p.Val1597Met
• NC_000003.11:g.38595794C>T
• NM_001160160.1:c.4714+72G>A
• NM_198056.2:c.4789G>A

This HGVS expression did not pass validation

Protein change:

V1543M

Links:

dbSNP: rs199473279

NCBI 1000 Genomes Browser:

rs199473279

Molecular consequence:

• NM_001160160.2:c.4714+72G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000335.5:c.4786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4789G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4735G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4627G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4732G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4789G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1