ClinVar

NM_000335.5(SCN5A):c.3624A>G (p.Thr1208=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38575336 (on Assembly GRCh38)
• Chr3: 38616827 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3624A>G (p.Thr1208=)

HGVS:

• NC_000003.12:g.38575336T>C
• NG_008934.1:g.79337A>G
• NM_000335.5:c.3624A>GMANE SELECT
• NM_001099404.2:c.3627A>G
• NM_001099405.2:c.3627A>G
• NM_001160160.2:c.3624A>G
• NM_001160161.2:c.3465A>G
• NM_001354701.2:c.3624A>G
• NM_198056.3:c.3627A>G
• NP_000326.2:p.Thr1208=
• NP_001092874.1:p.Thr1209=
• NP_001092875.1:p.Thr1209=
• NP_001153632.1:p.Thr1208=
• NP_001153633.1:p.Thr1155=
• NP_001341630.1:p.Thr1208=
• NP_932173.1:p.Thr1209=
• LRG_289:g.79337A>G
• NC_000003.11:g.38616827T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1575748730

NCBI 1000 Genomes Browser:

rs1575748730

Molecular consequence:

• NM_000335.5:c.3624A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099404.2:c.3627A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099405.2:c.3627A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160160.2:c.3624A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160161.2:c.3465A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354701.2:c.3624A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198056.3:c.3627A>G - synonymous variant - [Sequence Ontology: SO:0001819]