ClinVar

NM_000335.5(SCN5A):c.3913C>A (p.Arg1305Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38562462 (on Assembly GRCh38)
• Chr3: 38603953 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3913C>A (p.Arg1305Ser)

HGVS:

• NC_000003.12:g.38562462G>T
• NG_008934.1:g.92211C>A
• NM_000335.5:c.3913C>AMANE SELECT
• NM_001099404.2:c.3916C>A
• NM_001099405.2:c.3916C>A
• NM_001160160.2:c.3913C>A
• NM_001160161.2:c.3754C>A
• NM_001354701.2:c.3913C>A
• NM_198056.3:c.3916C>A
• NP_000326.2:p.Arg1305Ser
• NP_001092874.1:p.Arg1306Ser
• NP_001092875.1:p.Arg1306Ser
• NP_001153632.1:p.Arg1305Ser
• NP_001153633.1:p.Arg1252Ser
• NP_001341630.1:p.Arg1305Ser
• NP_932173.1:p.Arg1306Ser
• LRG_289t1:c.3916C>A
• LRG_289:g.92211C>A
• NC_000003.11:g.38603953G>T
• NM_198056.2:c.3916C>A

This HGVS expression did not pass validation

Protein change:

R1252S

Links:

dbSNP: rs1403211358

NCBI 1000 Genomes Browser:

rs1403211358

Molecular consequence:

• NM_000335.5:c.3913C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.3916C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.3916C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.3913C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.3754C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.3913C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.3916C>A - missense variant - [Sequence Ontology: SO:0001583]