ClinVar

NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38551005 (on Assembly GRCh38)
• Chr3: 38592496 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=)

Other names:

p.D1789D:GAC>GAT

HGVS:

• NC_000003.12:g.38551005G>A
• NG_008934.1:g.103668C>T
• NM_000335.5:c.5364C>TMANE SELECT
• NM_001099404.2:c.5367C>T
• NM_001099405.2:c.5313C>T
• NM_001160160.2:c.5268C>T
• NM_001160161.2:c.5205C>T
• NM_001354701.2:c.5310C>T
• NM_198056.3:c.5367C>T
• NP_000326.2:p.Asp1788=
• NP_001092874.1:p.Asp1789=
• NP_001092875.1:p.Asp1771=
• NP_001153632.1:p.Asp1756=
• NP_001153633.1:p.Asp1735=
• NP_001341630.1:p.Asp1770=
• NP_932173.1:p.Asp1789=
• NP_932173.1:p.Asp1789=
• LRG_289t1:c.5367C>T
• LRG_289:g.103668C>T
• LRG_289p1:p.Asp1789=
• NC_000003.11:g.38592496G>A
• NM_198056.2:c.5367C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs375752426

NCBI 1000 Genomes Browser:

rs375752426

Molecular consequence:

• NM_000335.5:c.5364C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099404.2:c.5367C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099405.2:c.5313C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160160.2:c.5268C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160161.2:c.5205C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354701.2:c.5310C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198056.3:c.5367C>T - synonymous variant - [Sequence Ontology: SO:0001819]