ClinVar

NM_000335.5(SCN5A):c.5531G>A (p.Gly1844Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550838 (on Assembly GRCh38)
• Chr3: 38592329 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5531G>A (p.Gly1844Glu)

HGVS:

• NC_000003.12:g.38550838C>T
• NG_008934.1:g.103835G>A
• NM_000335.5:c.5531G>AMANE SELECT
• NM_001099404.2:c.5534G>A
• NM_001099405.2:c.5480G>A
• NM_001160160.2:c.5435G>A
• NM_001160161.2:c.5372G>A
• NM_001354701.2:c.5477G>A
• NM_198056.3:c.5534G>A
• NP_000326.2:p.Gly1844Glu
• NP_000326.2:p.Gly1844Glu
• NP_001092874.1:p.Gly1845Glu
• NP_001092874.1:p.Gly1845Glu
• NP_001092875.1:p.Gly1827Glu
• NP_001153632.1:p.Gly1812Glu
• NP_001153633.1:p.Gly1791Glu
• NP_001341630.1:p.Gly1826Glu
• NP_932173.1:p.Gly1845Glu
• NP_932173.1:p.Gly1845Glu
• LRG_289t1:c.5534G>A
• LRG_289t2:c.5531G>A
• LRG_289t3:c.5534G>A
• LRG_289:g.103835G>A
• LRG_289p1:p.Gly1845Glu
• LRG_289p2:p.Gly1844Glu
• LRG_289p3:p.Gly1845Glu
• NC_000003.11:g.38592329C>T
• NM_000335.4:c.5531G>A
• NM_001099404.1:c.5534G>A
• NM_198056.2:c.5534G>A
• NR_176299.1:n.6280G>A

This HGVS expression did not pass validation

Protein change:

G1791E

Molecular consequence:

• NM_000335.5:c.5531G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5534G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5480G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5435G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5372G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5477G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5534G>A - missense variant - [Sequence Ontology: SO:0001583]