ClinVar

NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38603758 (on Assembly GRCh38)
• Chr3: 38645249 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)

Other names:

p.G615E:GGA>GAA

HGVS:

• NC_000003.12:g.38603758C>T
• NG_008934.1:g.50915G>A
• NM_000335.5:c.1844G>AMANE SELECT
• NM_001099404.2:c.1844G>A
• NM_001099405.2:c.1844G>A
• NM_001160160.2:c.1844G>A
• NM_001160161.2:c.1844G>A
• NM_001354701.2:c.1844G>A
• NM_198056.3:c.1844G>A
• NP_000326.2:p.Gly615Glu
• NP_000326.2:p.Gly615Glu
• NP_001092874.1:p.Gly615Glu
• NP_001092875.1:p.Gly615Glu
• NP_001153632.1:p.Gly615Glu
• NP_001153633.1:p.Gly615Glu
• NP_001341630.1:p.Gly615Glu
• NP_932173.1:p.Gly615Glu
• NP_932173.1:p.Gly615Glu
• LRG_289t1:c.1844G>A
• LRG_289t2:c.1844G>A
• LRG_289:g.50915G>A
• LRG_289p1:p.Gly615Glu
• LRG_289p2:p.Gly615Glu
• NC_000003.11:g.38645249C>T
• NM_000335.4:c.1844G>A
• NM_198056.2:c.1844G>A
• Q14524:p.Gly615Glu

This HGVS expression did not pass validation

Protein change:

G615E

Links:

UniProtKB: Q14524#VAR_026358; dbSNP: rs12720452

NCBI 1000 Genomes Browser:

rs12720452

Molecular consequence:

• NM_000335.5:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2