ClinVar

NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550661 (on Assembly GRCh38)
• Chr3: 38592152 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)

Other names:

p.S1904L:TCG>TTG

HGVS:

• NC_000003.12:g.38550661G>A
• NG_008934.1:g.104012C>T
• NM_000335.5:c.5708C>TMANE SELECT
• NM_001099404.2:c.5711C>T
• NM_001099405.2:c.5657C>T
• NM_001160160.2:c.5612C>T
• NM_001160161.2:c.5549C>T
• NM_001354701.2:c.5654C>T
• NM_198056.3:c.5711C>T
• NP_000326.2:p.Ser1903Leu
• NP_000326.2:p.Ser1903Leu
• NP_001092874.1:p.Ser1904Leu
• NP_001092875.1:p.Ser1886Leu
• NP_001153632.1:p.Ser1871Leu
• NP_001153633.1:p.Ser1850Leu
• NP_001341630.1:p.Ser1885Leu
• NP_932173.1:p.Ser1904Leu
• NP_932173.1:p.Ser1904Leu
• LRG_289t1:c.5711C>T
• LRG_289t2:c.5708C>T
• LRG_289:g.104012C>T
• LRG_289p1:p.Ser1904Leu
• LRG_289p2:p.Ser1903Leu
• NC_000003.11:g.38592152G>A
• NM_000335.4:c.5708C>T
• NM_198056.2:c.5711C>T
• c.5711C>T

This HGVS expression did not pass validation

Protein change:

S1850L

Links:

dbSNP: rs150264233

Molecular consequence:

• NM_000335.5:c.5708C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5711C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5657C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5612C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5549C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5654C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5711C>T - missense variant - [Sequence Ontology: SO:0001583]