ClinVar

NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38566439 (on Assembly GRCh38)
• Chr3: 38607930 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=)

Other names:

p.A1270A:GCC>GCT

HGVS:

• NC_000003.12:g.38566439G>A
• NG_008934.1:g.88234C>T
• NM_000335.5:c.3807C>TMANE SELECT
• NM_001099404.2:c.3810C>T
• NM_001099405.2:c.3810C>T
• NM_001160160.2:c.3807C>T
• NM_001160161.2:c.3648C>T
• NM_001354701.2:c.3807C>T
• NM_198056.3:c.3810C>T
• NP_000326.2:p.Ala1269=
• NP_001092874.1:p.Ala1270=
• NP_001092875.1:p.Ala1270=
• NP_001153632.1:p.Ala1269=
• NP_001153633.1:p.Ala1216=
• NP_001341630.1:p.Ala1269=
• NP_932173.1:p.Ala1270=
• NP_932173.1:p.Ala1270=
• LRG_289t1:c.3810C>T
• LRG_289:g.88234C>T
• LRG_289p1:p.Ala1270=
• NC_000003.11:g.38607930G>A
• NM_198056.2:c.3810C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs367927086

NCBI 1000 Genomes Browser:

rs367927086

Molecular consequence:

• NM_000335.5:c.3807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099404.2:c.3810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099405.2:c.3810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160160.2:c.3807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160161.2:c.3648C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354701.2:c.3807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198056.3:c.3810C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

13