ClinVar

NM_000335.5(SCN5A):c.2118C>T (p.Ile706=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38597873 (on Assembly GRCh38)
• Chr3: 38639364 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.2118C>T (p.Ile706=)

HGVS:

• NC_000003.12:g.38597873G>A
• NG_008934.1:g.56800C>T
• NM_000335.5:c.2118C>TMANE SELECT
• NM_001099404.2:c.2118C>T
• NM_001099405.2:c.2118C>T
• NM_001160160.2:c.2118C>T
• NM_001160161.2:c.2118C>T
• NM_001354701.2:c.2118C>T
• NM_198056.3:c.2118C>T
• NP_000326.2:p.Ile706=
• NP_001092874.1:p.Ile706=
• NP_001092875.1:p.Ile706=
• NP_001153632.1:p.Ile706=
• NP_001153633.1:p.Ile706=
• NP_001341630.1:p.Ile706=
• NP_932173.1:p.Ile706=
• LRG_289:g.56800C>T
• NC_000003.11:g.38639364G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2125893609

NCBI 1000 Genomes Browser:

rs2125893609

Molecular consequence:

• NM_000335.5:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099404.2:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099405.2:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160160.2:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160161.2:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354701.2:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198056.3:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1