ClinVar

NM_000335.5(SCN5A):c.4477T>A (p.Tyr1493Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38555718 (on Assembly GRCh38)
• Chr3: 38597209 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.4477T>A (p.Tyr1493Asn)

HGVS:

• NC_000003.12:g.38555718A>T
• NG_008934.1:g.98955T>A
• NM_000335.5:c.4477T>AMANE SELECT
• NM_001099404.2:c.4480T>A
• NM_001099405.2:c.4426T>A
• NM_001160160.2:c.4477T>A
• NM_001160161.2:c.4318T>A
• NM_001354701.2:c.4423T>A
• NM_198056.3:c.4480T>A
• NP_000326.2:p.Tyr1493Asn
• NP_001092874.1:p.Tyr1494Asn
• NP_001092875.1:p.Tyr1476Asn
• NP_001153632.1:p.Tyr1493Asn
• NP_001153633.1:p.Tyr1440Asn
• NP_001341630.1:p.Tyr1475Asn
• NP_932173.1:p.Tyr1494Asn
• NP_932173.1:p.Tyr1494Asn
• LRG_289t1:c.4480T>A
• LRG_289:g.98955T>A
• LRG_289p1:p.Tyr1494Asn
• NC_000003.11:g.38597209A>T
• NM_198056.2:c.4480T>A

This HGVS expression did not pass validation

Protein change:

Y1440N

Links:

dbSNP: rs199473261

NCBI 1000 Genomes Browser:

rs199473261

Molecular consequence:

• NM_000335.5:c.4477T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.4480T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.4477T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.4318T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.4423T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.4480T>A - missense variant - [Sequence Ontology: SO:0001583]