ClinVar

NM_000335.5(SCN5A):c.3753G>C (p.Leu1251=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38566493 (on Assembly GRCh38)
• Chr3: 38607984 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3753G>C (p.Leu1251=)

HGVS:

• NC_000003.12:g.38566493C>G
• NG_008934.1:g.88180G>C
• NM_000335.5:c.3753G>CMANE SELECT
• NM_001099404.2:c.3756G>C
• NM_001099405.2:c.3756G>C
• NM_001160160.2:c.3753G>C
• NM_001160161.2:c.3594G>C
• NM_001354701.2:c.3753G>C
• NM_198056.3:c.3756G>C
• NP_000326.2:p.Leu1251=
• NP_001092874.1:p.Leu1252=
• NP_001092875.1:p.Leu1252=
• NP_001153632.1:p.Leu1251=
• NP_001153633.1:p.Leu1198=
• NP_001341630.1:p.Leu1251=
• NP_932173.1:p.Leu1252=
• NP_932173.1:p.Leu1252=
• LRG_289t1:c.3756G>C
• LRG_289:g.88180G>C
• LRG_289p1:p.Leu1252=
• NC_000003.11:g.38607984C>G
• NM_198056.2:c.3756G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1410342625

NCBI 1000 Genomes Browser:

rs1410342625

Molecular consequence:

• NM_000335.5:c.3753G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099404.2:c.3756G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099405.2:c.3756G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160160.2:c.3753G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160161.2:c.3594G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354701.2:c.3753G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198056.3:c.3756G>C - synonymous variant - [Sequence Ontology: SO:0001819]