ClinVar

NM_000335.5(SCN5A):c.5538C>T (p.Arg1846=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550831 (on Assembly GRCh38)
• Chr3: 38592322 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5538C>T (p.Arg1846=)

HGVS:

• NC_000003.12:g.38550831G>A
• NG_008934.1:g.103842C>T
• NM_000335.5:c.5538C>TMANE SELECT
• NM_001099404.2:c.5541C>T
• NM_001099405.2:c.5487C>T
• NM_001160160.2:c.5442C>T
• NM_001160161.2:c.5379C>T
• NM_001354701.2:c.5484C>T
• NM_198056.3:c.5541C>T
• NP_000326.2:p.Arg1846=
• NP_000326.2:p.Arg1846=
• NP_001092874.1:p.Arg1847=
• NP_001092874.1:p.Arg1847=
• NP_001092875.1:p.Arg1829=
• NP_001153632.1:p.Arg1814=
• NP_001153633.1:p.Arg1793=
• NP_001341630.1:p.Arg1828=
• NP_932173.1:p.Arg1847=
• NP_932173.1:p.Arg1847=
• LRG_289t1:c.5541C>T
• LRG_289t2:c.5538C>T
• LRG_289t3:c.5541C>T
• LRG_289:g.103842C>T
• LRG_289p1:p.Arg1847=
• LRG_289p2:p.Arg1846=
• LRG_289p3:p.Arg1847=
• NC_000003.11:g.38592322G>A
• NM_000335.4:c.5538C>T
• NM_001099404.1:c.5541C>T
• NM_198056.2:c.5541C>T
• NR_176299.1:n.6287C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_176299.1:n.6287C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000335.5:c.5538C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099404.2:c.5541C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099405.2:c.5487C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160160.2:c.5442C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160161.2:c.5379C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354701.2:c.5484C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198056.3:c.5541C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1