ClinVar

NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38566498 (on Assembly GRCh38)
• Chr3: 38607989 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)

Other names:

p.V1251M:GTG>ATG

HGVS:

• NC_000003.12:g.38566498C>T
• NG_008934.1:g.88175G>A
• NM_000335.5:c.3748G>AMANE SELECT
• NM_001099404.2:c.3751G>A
• NM_001099405.2:c.3751G>A
• NM_001160160.2:c.3748G>A
• NM_001160161.2:c.3589G>A
• NM_001354701.2:c.3748G>A
• NM_198056.3:c.3751G>A
• NP_000326.2:p.Val1250Met
• NP_001092874.1:p.Val1251Met
• NP_001092875.1:p.Val1251Met
• NP_001153632.1:p.Val1250Met
• NP_001153633.1:p.Val1197Met
• NP_001341630.1:p.Val1250Met
• NP_932173.1:p.Val1251Met
• NP_932173.1:p.Val1251Met
• LRG_289t1:c.3751G>A
• LRG_289:g.88175G>A
• LRG_289p1:p.Val1251Met
• NC_000003.11:g.38607989C>T
• NM_198056.2:c.3751G>A
• Q14524:p.Val1251Met

This HGVS expression did not pass validation

Protein change:

V1197M

Links:

UniProtKB: Q14524#VAR_074418; dbSNP: rs199473600

NCBI 1000 Genomes Browser:

rs199473600

Molecular consequence:

• NM_000335.5:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.3751G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.3751G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.3589G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.3751G>A - missense variant - [Sequence Ontology: SO:0001583]