ClinVar

NM_000335.5(SCN5A):c.5471T>C (p.Leu1824Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38550898 (on Assembly GRCh38)
• Chr3: 38592389 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5471T>C (p.Leu1824Pro)

HGVS:

• NC_000003.12:g.38550898A>G
• NG_008934.1:g.103775T>C
• NM_000335.5:c.5471T>CMANE SELECT
• NM_001099404.2:c.5474T>C
• NM_001099405.2:c.5420T>C
• NM_001160160.2:c.5375T>C
• NM_001160161.2:c.5312T>C
• NM_001354701.2:c.5417T>C
• NM_198056.3:c.5474T>C
• NP_000326.2:p.Leu1824Pro
• NP_001092874.1:p.Leu1825Pro
• NP_001092875.1:p.Leu1807Pro
• NP_001153632.1:p.Leu1792Pro
• NP_001153633.1:p.Leu1771Pro
• NP_001341630.1:p.Leu1806Pro
• NP_932173.1:p.Leu1825Pro
• NP_932173.1:p.Leu1825Pro
• LRG_289t1:c.5474T>C
• LRG_289:g.103775T>C
• LRG_289p1:p.Leu1825Pro
• NC_000003.11:g.38592389A>G
• NM_198056.2:c.5474T>C

This HGVS expression did not pass validation

Protein change:

L1771P

Links:

dbSNP: rs79299226

NCBI 1000 Genomes Browser:

rs79299226

Molecular consequence:

• NM_000335.5:c.5471T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5474T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5420T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5375T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5312T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5417T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5474T>C - missense variant - [Sequence Ontology: SO:0001583]