ClinVar

NM_000335.5(SCN5A):c.4310C>T (p.Pro1437Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38556565 (on Assembly GRCh38)
• Chr3: 38598056 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4310C>T (p.Pro1437Leu)

HGVS:

• NC_000003.12:g.38556565G>A
• NG_008934.1:g.98108C>T
• NM_000335.5:c.4310C>TMANE SELECT
• NM_001099404.2:c.4313C>T
• NM_001099405.2:c.4259C>T
• NM_001160160.2:c.4310C>T
• NM_001160161.2:c.4151C>T
• NM_001354701.2:c.4256C>T
• NM_198056.3:c.4313C>T
• NP_000326.2:p.Pro1437Leu
• NP_001092874.1:p.Pro1438Leu
• NP_001092875.1:p.Pro1420Leu
• NP_001153632.1:p.Pro1437Leu
• NP_001153633.1:p.Pro1384Leu
• NP_001341630.1:p.Pro1419Leu
• NP_932173.1:p.Pro1438Leu
• NP_932173.1:p.Pro1438Leu
• LRG_289t1:c.4313C>T
• LRG_289:g.98108C>T
• LRG_289p1:p.Pro1438Leu
• NC_000003.11:g.38598056G>A
• NM_198056.2:c.4313C>T

This HGVS expression did not pass validation

Protein change:

P1384L

Links:

dbSNP: rs199473248

NCBI 1000 Genomes Browser:

rs199473248

Molecular consequence:

• NM_000335.5:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4259C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4151C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4256C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]