ClinVar

NM_000335.5(SCN5A):c.5559C>T (p.Leu1853=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550810 (on Assembly GRCh38)
• Chr3: 38592301 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5559C>T (p.Leu1853=)

HGVS:

• NC_000003.12:g.38550810G>A
• NG_008934.1:g.103863C>T
• NM_000335.5:c.5559C>TMANE SELECT
• NM_001099404.2:c.5562C>T
• NM_001099405.2:c.5508C>T
• NM_001160160.2:c.5463C>T
• NM_001160161.2:c.5400C>T
• NM_001354701.2:c.5505C>T
• NM_198056.3:c.5562C>T
• NP_000326.2:p.Leu1853=
• NP_001092874.1:p.Leu1854=
• NP_001092875.1:p.Leu1836=
• NP_001153632.1:p.Leu1821=
• NP_001153633.1:p.Leu1800=
• NP_001341630.1:p.Leu1835=
• NP_932173.1:p.Leu1854=
• NP_932173.1:p.Leu1854=
• LRG_289t1:c.5562C>T
• LRG_289:g.103863C>T
• LRG_289p1:p.Leu1854=
• NC_000003.11:g.38592301G>A
• NM_198056.2:c.5562C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs758289489

NCBI 1000 Genomes Browser:

rs758289489

Molecular consequence:

• NM_000335.5:c.5559C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099404.2:c.5562C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099405.2:c.5508C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160160.2:c.5463C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160161.2:c.5400C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354701.2:c.5505C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198056.3:c.5562C>T - synonymous variant - [Sequence Ontology: SO:0001819]