ClinVar

NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38562505 (on Assembly GRCh38)
• Chr3: 38603996 (on Assembly GRCh37)

Preferred name:

NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)

HGVS:

• NC_000003.12:g.38562505C>T
• NG_008934.1:g.92168G>A
• NM_000335.5:c.3870G>AMANE SELECT
• NM_001099404.2:c.3873G>A
• NM_001099405.2:c.3873G>A
• NM_001160160.2:c.3870G>A
• NM_001160161.2:c.3711G>A
• NM_001354701.2:c.3870G>A
• NM_198056.3:c.3873G>A
• NP_000326.2:p.Leu1290=
• NP_001092874.1:p.Leu1291=
• NP_001092875.1:p.Leu1291=
• NP_001153632.1:p.Leu1290=
• NP_001153633.1:p.Leu1237=
• NP_001341630.1:p.Leu1290=
• NP_932173.1:p.Leu1291=
• NP_932173.1:p.Leu1291=
• LRG_289t1:c.3873G>A
• LRG_289:g.92168G>A
• LRG_289p1:p.Leu1291=
• NC_000003.11:g.38603996C>T
• NM_198056.2:c.3873G>A
• p.Leu1291Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs41313033

NCBI 1000 Genomes Browser:

rs41313033

Molecular consequence:

• NM_000335.5:c.3870G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099404.2:c.3873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001099405.2:c.3873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160160.2:c.3870G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001160161.2:c.3711G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354701.2:c.3870G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198056.3:c.3873G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

• No RNA splicing impact

Observations:

5