ClinVar

NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)

Genes:

SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 166013838 (on Assembly GRCh38)
• Chr2: 166870348 (on Assembly GRCh37)

Preferred name:

NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)

HGVS:

• NC_000002.12:g.166013838C>T
• NG_011906.1:g.64802G>A
• NM_001165963.4:c.3611G>AMANE SELECT
• NM_001165964.3:c.3527G>A
• NM_001202435.3:c.3611G>A
• NM_001353948.2:c.3611G>A
• NM_001353949.2:c.3578G>A
• NM_001353950.2:c.3578G>A
• NM_001353951.2:c.3578G>A
• NM_001353952.2:c.3578G>A
• NM_001353954.2:c.3575G>A
• NM_001353955.2:c.3575G>A
• NM_001353957.2:c.3527G>A
• NM_001353958.2:c.3527G>A
• NM_001353960.2:c.3524G>A
• NM_001353961.2:c.1169G>A
• NM_006920.6:c.3578G>A
• NP_001159435.1:p.Trp1204Ter
• NP_001159436.1:p.Trp1176Ter
• NP_001189364.1:p.Trp1204Ter
• NP_001340877.1:p.Trp1204Ter
• NP_001340878.1:p.Trp1193Ter
• NP_001340879.1:p.Trp1193Ter
• NP_001340880.1:p.Trp1193Ter
• NP_001340881.1:p.Trp1193Ter
• NP_001340883.1:p.Trp1192Ter
• NP_001340884.1:p.Trp1192Ter
• NP_001340886.1:p.Trp1176Ter
• NP_001340887.1:p.Trp1176Ter
• NP_001340889.1:p.Trp1175Ter
• NP_001340890.1:p.Trp390Ter
• NP_008851.3:p.Trp1193Ter
• LRG_8:g.64802G>A
• NC_000002.11:g.166870348C>T
• NM_001165963.1:c.3611G>A
• NR_148667.2:n.3964G>A

This HGVS expression did not pass validation

Protein change:

W1175*

Links:

dbSNP: rs1559149128

NCBI 1000 Genomes Browser:

rs1559149128

Molecular consequence:

• NR_148667.2:n.3964G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001165963.4:c.3611G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001165964.3:c.3527G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001202435.3:c.3611G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353948.2:c.3611G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353949.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353950.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353951.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353952.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353954.2:c.3575G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353955.2:c.3575G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353957.2:c.3527G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353958.2:c.3527G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353960.2:c.3524G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001353961.2:c.1169G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_006920.6:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]