ClinVar

NM_000335.5(SCN5A):c.4948A>T (p.Met1650Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38551421 (on Assembly GRCh38)
• Chr3: 38592912 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4948A>T (p.Met1650Leu)

HGVS:

• NC_000003.12:g.38551421T>A
• NG_008934.1:g.103252A>T
• NM_000335.5:c.4948A>TMANE SELECT
• NM_001099404.2:c.4951A>T
• NM_001099405.2:c.4897A>T
• NM_001160160.2:c.4852A>T
• NM_001160161.2:c.4789A>T
• NM_001354701.2:c.4894A>T
• NM_198056.3:c.4951A>T
• NP_000326.2:p.Met1650Leu
• NP_001092874.1:p.Met1651Leu
• NP_001092875.1:p.Met1633Leu
• NP_001153632.1:p.Met1618Leu
• NP_001153633.1:p.Met1597Leu
• NP_001341630.1:p.Met1632Leu
• NP_932173.1:p.Met1651Leu
• LRG_289t1:c.4951A>T
• LRG_289:g.103252A>T
• NC_000003.11:g.38592912T>A
• NM_198056.2:c.4951A>T

This HGVS expression did not pass validation

Protein change:

M1597L

Links:

dbSNP: rs794728889

NCBI 1000 Genomes Browser:

rs794728889

Molecular consequence:

• NM_000335.5:c.4948A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4951A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.4852A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4789A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4951A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1