ClinVar

NM_000335.5(SCN5A):c.4799T>A (p.Leu1600His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38554290 (on Assembly GRCh38)
• Chr3: 38595781 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4799T>A (p.Leu1600His)

HGVS:

• NC_000003.12:g.38554290A>T
• NG_008934.1:g.100383T>A
• NM_000335.5:c.4799T>AMANE SELECT
• NM_001099404.2:c.4802T>A
• NM_001099405.2:c.4748T>A
• NM_001160160.2:c.4714+85T>A
• NM_001160161.2:c.4640T>A
• NM_001354701.2:c.4745T>A
• NM_198056.3:c.4802T>A
• NP_000326.2:p.Leu1600His
• NP_000326.2:p.Leu1600His
• NP_001092874.1:p.Leu1601His
• NP_001092874.1:p.Leu1601His
• NP_001092875.1:p.Leu1583His
• NP_001153633.1:p.Leu1547His
• NP_001341630.1:p.Leu1582His
• NP_932173.1:p.Leu1601His
• NP_932173.1:p.Leu1601His
• LRG_289t1:c.4802T>A
• LRG_289t2:c.4799T>A
• LRG_289t3:c.4802T>A
• LRG_289:g.100383T>A
• LRG_289p1:p.Leu1601His
• LRG_289p2:p.Leu1600His
• LRG_289p3:p.Leu1601His
• NC_000003.11:g.38595781A>T
• NM_000335.4:c.4799T>A
• NM_001099404.1:c.4802T>A
• NM_198056.2:c.4802T>A
• NM_198056.2:c.4802T>A
• NR_176299.1:n.5548T>A

This HGVS expression did not pass validation

Protein change:

L1547H

Molecular consequence:

• NM_001160160.2:c.4714+85T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000335.5:c.4799T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4802T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4748T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4640T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4745T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4802T>A - missense variant - [Sequence Ontology: SO:0001583]