ClinVar

NM_000335.5(SCN5A):c.4128C>T (p.Ile1376=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38560261 (on Assembly GRCh38)
• Chr3: 38601752 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4128C>T (p.Ile1376=)

HGVS:

• NC_000003.12:g.38560261G>A
• NG_008934.1:g.94412C>T
• NM_000335.5:c.4128C>TMANE SELECT
• NM_001099404.2:c.4131C>T
• NM_001099405.2:c.4131C>T
• NM_001160160.2:c.4128C>T
• NM_001160161.2:c.3969C>T
• NM_001354701.2:c.4128C>T
• NM_198056.3:c.4131C>T
• NP_000326.2:p.Ile1376=
• NP_001092874.1:p.Ile1377=
• NP_001092875.1:p.Ile1377=
• NP_001153632.1:p.Ile1376=
• NP_001153633.1:p.Ile1323=
• NP_001341630.1:p.Ile1376=
• NP_932173.1:p.Ile1377=
• LRG_289t1:c.4131C>T
• LRG_289:g.94412C>T
• NC_000003.11:g.38601752G>A
• NC_000003.11:g.38601752G>A
• NM_198056.2:c.4131C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs769790752

NCBI 1000 Genomes Browser:

rs769790752

Molecular consequence:

• NM_000335.5:c.4128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099404.2:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099405.2:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160160.2:c.4128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160161.2:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354701.2:c.4128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198056.3:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]