ClinVar

NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38555691 (on Assembly GRCh38)
• Chr3: 38597182 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro)

HGVS:

• NC_000003.12:g.38555691A>G
• NG_008934.1:g.98982T>C
• NM_000335.5:c.4504T>CMANE SELECT
• NM_001099404.2:c.4507T>C
• NM_001099405.2:c.4453T>C
• NM_001160160.2:c.4504T>C
• NM_001160161.2:c.4345T>C
• NM_001354701.2:c.4450T>C
• NM_198056.3:c.4507T>C
• NP_000326.2:p.Ser1502Pro
• NP_001092874.1:p.Ser1503Pro
• NP_001092875.1:p.Ser1485Pro
• NP_001153632.1:p.Ser1502Pro
• NP_001153633.1:p.Ser1449Pro
• NP_001341630.1:p.Ser1484Pro
• NP_932173.1:p.Ser1503Pro
• NP_932173.1:p.Ser1503Pro
• LRG_289t1:c.4507T>C
• LRG_289:g.98982T>C
• LRG_289p1:p.Ser1503Pro
• NC_000003.11:g.38597182A>G
• NM_198056.2:c.4507T>C

This HGVS expression did not pass validation

Protein change:

S1449P

Links:

dbSNP: rs199473342

NCBI 1000 Genomes Browser:

rs199473342

Molecular consequence:

• NM_000335.5:c.4504T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4507T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4453T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.4504T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4345T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4450T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4507T>C - missense variant - [Sequence Ontology: SO:0001583]