ClinVar

NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550528 (on Assembly GRCh38)
• Chr3: 38592019 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=)

HGVS:

• NC_000003.12:g.38550528G>A
• NG_008934.1:g.104145C>T
• NM_000335.5:c.5841C>TMANE SELECT
• NM_001099404.2:c.5844C>T
• NM_001099405.2:c.5790C>T
• NM_001160160.2:c.5745C>T
• NM_001160161.2:c.5682C>T
• NM_001354701.2:c.5787C>T
• NM_198056.3:c.5844C>T
• NP_000326.2:p.Ile1947=
• NP_001092874.1:p.Ile1948=
• NP_001092874.1:p.Ile1948=
• NP_001092875.1:p.Ile1930=
• NP_001153632.1:p.Ile1915=
• NP_001153633.1:p.Ile1894=
• NP_001341630.1:p.Ile1929=
• NP_932173.1:p.Ile1948=
• NP_932173.1:p.Ile1948=
• LRG_289t1:c.5844C>T
• LRG_289t3:c.5844C>T
• LRG_289:g.104145C>T
• LRG_289p1:p.Ile1948=
• LRG_289p3:p.Ile1948=
• NC_000003.11:g.38592019G>A
• NM_001099404.1:c.5844C>T
• NM_198056.2:c.5844C>T
• NP_932173.1:p.(=)
• c.5844C>T
• p.Ile1948Ile

This HGVS expression did not pass validation

Links:

dbSNP: rs13324293

NCBI 1000 Genomes Browser:

rs13324293

Molecular consequence:

• NM_000335.5:c.5841C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099404.2:c.5844C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099405.2:c.5790C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160160.2:c.5745C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160161.2:c.5682C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354701.2:c.5787C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198056.3:c.5844C>T - synonymous variant - [Sequence Ontology: SO:0001819]