ClinVar

NM_001165963.4(SCN1A):c.1439C>G (p.Ser480Ter)

Gene:

SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 166045266 (on Assembly GRCh38)
• Chr2: 166901776 (on Assembly GRCh37)

Preferred name:

NM_001165963.4(SCN1A):c.1439C>G (p.Ser480Ter)

HGVS:

• NC_000002.12:g.166045266G>C
• NG_011906.1:g.33374C>G
• NM_001165963.4:c.1439C>GMANE SELECT
• NM_001165964.3:c.1439C>G
• NM_001202435.3:c.1439C>G
• NM_001353948.2:c.1439C>G
• NM_001353949.2:c.1439C>G
• NM_001353950.2:c.1439C>G
• NM_001353951.2:c.1439C>G
• NM_001353952.2:c.1439C>G
• NM_001353954.2:c.1436C>G
• NM_001353955.2:c.1436C>G
• NM_001353957.2:c.1439C>G
• NM_001353958.2:c.1439C>G
• NM_001353960.2:c.1436C>G
• NM_001353961.2:c.-987C>G
• NM_006920.6:c.1439C>G
• NP_001159435.1:p.Ser480Ter
• NP_001159436.1:p.Ser480Ter
• NP_001189364.1:p.Ser480Ter
• NP_001340877.1:p.Ser480Ter
• NP_001340878.1:p.Ser480Ter
• NP_001340879.1:p.Ser480Ter
• NP_001340880.1:p.Ser480Ter
• NP_001340881.1:p.Ser480Ter
• NP_001340883.1:p.Ser479Ter
• NP_001340884.1:p.Ser479Ter
• NP_001340886.1:p.Ser480Ter
• NP_001340887.1:p.Ser480Ter
• NP_001340889.1:p.Ser479Ter
• NP_008851.3:p.Ser480Ter
• LRG_8:g.33374C>G
• NC_000002.11:g.166901776G>C
• NM_001165963.2:c.1439C>G
• NR_148667.2:n.1825C>G

This HGVS expression did not pass validation

Protein change:

S479*

Links:

dbSNP: rs2105852267

NCBI 1000 Genomes Browser:

rs2105852267

Molecular consequence:

• NM_001353961.2:c.-987C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_148667.2:n.1825C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001165963.4:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001165964.3:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001202435.3:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353948.2:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353949.2:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353950.2:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353951.2:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353952.2:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353954.2:c.1436C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353955.2:c.1436C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353957.2:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353958.2:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353960.2:c.1436C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_006920.6:c.1439C>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1