ClinVar

NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38551074 (on Assembly GRCh38)
• Chr3: 38592565 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile)

HGVS:

• NC_000003.12:g.38551074C>T
• NG_008934.1:g.103599G>A
• NM_000335.5:c.5295G>AMANE SELECT
• NM_001099404.2:c.5298G>A
• NM_001099405.2:c.5244G>A
• NM_001160160.2:c.5199G>A
• NM_001160161.2:c.5136G>A
• NM_001354701.2:c.5241G>A
• NM_198056.3:c.5298G>A
• NP_000326.2:p.Met1765Ile
• NP_001092874.1:p.Met1766Ile
• NP_001092875.1:p.Met1748Ile
• NP_001153632.1:p.Met1733Ile
• NP_001153633.1:p.Met1712Ile
• NP_001341630.1:p.Met1747Ile
• NP_932173.1:p.Met1766Ile
• NP_932173.1:p.Met1766Ile
• LRG_289t1:c.5298G>A
• LRG_289:g.103599G>A
• LRG_289p1:p.Met1766Ile
• NC_000003.11:g.38592565C>T
• NM_198056.2:c.5298G>A

This HGVS expression did not pass validation

Protein change:

M1712I

Links:

dbSNP: rs1553692822

NCBI 1000 Genomes Browser:

rs1553692822

Molecular consequence:

• NM_000335.5:c.5295G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5298G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5244G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5136G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5241G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5298G>A - missense variant - [Sequence Ontology: SO:0001583]