ClinVar

NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln)

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: 165991283 (on Assembly GRCh38)
• Chr2: 166847793 (on Assembly GRCh37)

Preferred name:

NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln)

HGVS:

• NC_000002.12:g.165991283C>G
• NG_011906.1:g.87357G>C
• NM_001165963.4:c.5992G>CMANE SELECT
• NM_001165964.3:c.5908G>C
• NM_001202435.3:c.5992G>C
• NM_001353948.2:c.5992G>C
• NM_001353949.2:c.5959G>C
• NM_001353950.2:c.5959G>C
• NM_001353951.2:c.5959G>C
• NM_001353952.2:c.5959G>C
• NM_001353954.2:c.5956G>C
• NM_001353955.2:c.5956G>C
• NM_001353957.2:c.5908G>C
• NM_001353958.2:c.5908G>C
• NM_001353960.2:c.5905G>C
• NM_001353961.2:c.3550G>C
• NM_006920.6:c.5959G>C
• NP_001159435.1:p.Glu1998Gln
• NP_001159436.1:p.Glu1970Gln
• NP_001189364.1:p.Glu1998Gln
• NP_001340877.1:p.Glu1998Gln
• NP_001340878.1:p.Glu1987Gln
• NP_001340879.1:p.Glu1987Gln
• NP_001340880.1:p.Glu1987Gln
• NP_001340881.1:p.Glu1987Gln
• NP_001340883.1:p.Glu1986Gln
• NP_001340884.1:p.Glu1986Gln
• NP_001340886.1:p.Glu1970Gln
• NP_001340887.1:p.Glu1970Gln
• NP_001340889.1:p.Glu1969Gln
• NP_001340890.1:p.Glu1184Gln
• NP_008851.3:p.Glu1987Gln
• LRG_8:g.87357G>C
• NC_000002.11:g.166847793C>G
• NM_001165963.1:c.5992G>C
• NR_148667.2:n.6409G>C

This HGVS expression did not pass validation

Protein change:

E1184Q

Links:

dbSNP: rs886055041

NCBI 1000 Genomes Browser:

rs886055041

Molecular consequence:

• NM_001165963.4:c.5992G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001165964.3:c.5908G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001202435.3:c.5992G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353948.2:c.5992G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353949.2:c.5959G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353950.2:c.5959G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353951.2:c.5959G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353952.2:c.5959G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353954.2:c.5956G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353955.2:c.5956G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353957.2:c.5908G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353958.2:c.5908G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353960.2:c.5905G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353961.2:c.3550G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006920.6:c.5959G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_148667.2:n.6409G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]