ClinVar

NM_000335.5(SCN5A):c.3883A>T (p.Met1295Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38562492 (on Assembly GRCh38)
• Chr3: 38603983 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3883A>T (p.Met1295Leu)

HGVS:

• NC_000003.12:g.38562492T>A
• NG_008934.1:g.92181A>T
• NM_000335.5:c.3883A>TMANE SELECT
• NM_001099404.2:c.3886A>T
• NM_001099405.2:c.3886A>T
• NM_001160160.2:c.3883A>T
• NM_001160161.2:c.3724A>T
• NM_001354701.2:c.3883A>T
• NM_198056.3:c.3886A>T
• NP_000326.2:p.Met1295Leu
• NP_000326.2:p.Met1295Leu
• NP_001092874.1:p.Met1296Leu
• NP_001092874.1:p.Met1296Leu
• NP_001092875.1:p.Met1296Leu
• NP_001153632.1:p.Met1295Leu
• NP_001153633.1:p.Met1242Leu
• NP_001341630.1:p.Met1295Leu
• NP_932173.1:p.Met1296Leu
• NP_932173.1:p.Met1296Leu
• LRG_289t1:c.3886A>T
• LRG_289t2:c.3883A>T
• LRG_289t3:c.3886A>T
• LRG_289:g.92181A>T
• LRG_289p1:p.Met1296Leu
• LRG_289p2:p.Met1295Leu
• LRG_289p3:p.Met1296Leu
• NC_000003.11:g.38603983T>A
• NM_000335.4:c.3883A>T
• NM_001099404.1:c.3886A>T
• NM_198056.2:c.3886A>T
• NR_176299.1:n.4632A>T

This HGVS expression did not pass validation

Protein change:

M1242L

Molecular consequence:

• NM_000335.5:c.3883A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.3886A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.3886A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.3883A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.3724A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.3883A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.3886A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_176299.1:n.4632A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1