ClinVar

NM_000335.5(SCN5A):c.5380T>C (p.Tyr1794His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550989 (on Assembly GRCh38)
• Chr3: 38592480 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5380T>C (p.Tyr1794His)

HGVS:

• NC_000003.12:g.38550989A>G
• NG_008934.1:g.103684T>C
• NM_000335.5:c.5380T>CMANE SELECT
• NM_001099404.2:c.5383T>C
• NM_001099405.2:c.5329T>C
• NM_001160160.2:c.5284T>C
• NM_001160161.2:c.5221T>C
• NM_001354701.2:c.5326T>C
• NM_198056.3:c.5383T>C
• NP_000326.2:p.Tyr1794His
• NP_001092874.1:p.Tyr1795His
• NP_001092875.1:p.Tyr1777His
• NP_001153632.1:p.Tyr1762His
• NP_001153633.1:p.Tyr1741His
• NP_001341630.1:p.Tyr1776His
• NP_932173.1:p.Tyr1795His
• NP_932173.1:p.Tyr1795His
• LRG_289t1:c.5383T>C
• LRG_289:g.103684T>C
• LRG_289p1:p.Tyr1795His
• NC_000003.11:g.38592480A>G
• NM_198056.2:c.5383T>C

This HGVS expression did not pass validation

Protein change:

Y1741H; TYR1795HIS

Links:

OMIM: 600163.0030; dbSNP: rs137854615

NCBI 1000 Genomes Browser:

rs137854615

Molecular consequence:

• NM_000335.5:c.5380T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5329T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5284T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5221T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5326T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]