ClinVar

NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38551187 (on Assembly GRCh38)
• Chr3: 38592678 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn)

Other names:

p.D1729N:GAC>AAC

HGVS:

• NC_000003.12:g.38551187C>T
• NG_008934.1:g.103486G>A
• NM_000335.5:c.5182G>AMANE SELECT
• NM_001099404.2:c.5185G>A
• NM_001099405.2:c.5131G>A
• NM_001160160.2:c.5086G>A
• NM_001160161.2:c.5023G>A
• NM_001354701.2:c.5128G>A
• NM_198056.3:c.5185G>A
• NP_000326.2:p.Asp1728Asn
• NP_001092874.1:p.Asp1729Asn
• NP_001092875.1:p.Asp1711Asn
• NP_001153632.1:p.Asp1696Asn
• NP_001153633.1:p.Asp1675Asn
• NP_001341630.1:p.Asp1710Asn
• NP_932173.1:p.Asp1729Asn
• NP_932173.1:p.Asp1729Asn
• LRG_289t1:c.5185G>A
• LRG_289:g.103486G>A
• LRG_289p1:p.Asp1729Asn
• NC_000003.11:g.38592678C>T
• NM_198056.2:c.5185G>A

This HGVS expression did not pass validation

Protein change:

D1675N

Links:

dbSNP: rs763880032

NCBI 1000 Genomes Browser:

rs763880032

Molecular consequence:

• NM_000335.5:c.5182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099404.2:c.5185G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001099405.2:c.5131G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160160.2:c.5086G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160161.2:c.5023G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354701.2:c.5128G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198056.3:c.5185G>A - missense variant - [Sequence Ontology: SO:0001583]