ClinVar

NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38603890 (on Assembly GRCh38)
• Chr3: 38645381 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile)

HGVS:

• NC_000003.12:g.38603890C>A
• NG_008934.1:g.50783G>T
• NM_000335.5:c.1712G>TMANE SELECT
• NM_001099404.2:c.1712G>T
• NM_001099405.2:c.1712G>T
• NM_001160160.2:c.1712G>T
• NM_001160161.2:c.1712G>T
• NM_001354701.2:c.1712G>T
• NM_198056.3:c.1712G>T
• NP_000326.2:p.Ser571Ile
• NP_000326.2:p.Ser571Ile
• NP_001092874.1:p.Ser571Ile
• NP_001092875.1:p.Ser571Ile
• NP_001153632.1:p.Ser571Ile
• NP_001153633.1:p.Ser571Ile
• NP_001341630.1:p.Ser571Ile
• NP_932173.1:p.Ser571Ile
• NP_932173.1:p.Ser571Ile
• LRG_289t1:c.1712G>T
• LRG_289t2:c.1712G>T
• LRG_289:g.50783G>T
• LRG_289p1:p.Ser571Ile
• LRG_289p2:p.Ser571Ile
• NC_000003.11:g.38645381C>A
• NM_000335.4:c.1712G>T
• NM_198056.2:c.1712G>T
• Q14524:p.Ser571Ile

This HGVS expression did not pass validation

Protein change:

S571I

Links:

UniProtKB: Q14524#VAR_074715; dbSNP: rs199473126

NCBI 1000 Genomes Browser:

rs199473126

Molecular consequence:

• NM_000335.5:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.1712G>T - missense variant - [Sequence Ontology: SO:0001583]