ClinVar

NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu)

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: 165992285 (on Assembly GRCh38)
• Chr2: 166848795 (on Assembly GRCh37)

Preferred name:

NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu)

HGVS:

• NC_000002.12:g.165992285T>G
• NG_011906.1:g.86355A>C
• NM_001165963.4:c.4990A>CMANE SELECT
• NM_001165964.3:c.4906A>C
• NM_001202435.3:c.4990A>C
• NM_001353948.2:c.4990A>C
• NM_001353949.2:c.4957A>C
• NM_001353950.2:c.4957A>C
• NM_001353951.2:c.4957A>C
• NM_001353952.2:c.4957A>C
• NM_001353954.2:c.4954A>C
• NM_001353955.2:c.4954A>C
• NM_001353957.2:c.4906A>C
• NM_001353958.2:c.4906A>C
• NM_001353960.2:c.4903A>C
• NM_001353961.2:c.2548A>C
• NM_006920.6:c.4957A>C
• NP_001159435.1:p.Met1664Leu
• NP_001159436.1:p.Met1636Leu
• NP_001189364.1:p.Met1664Leu
• NP_001340877.1:p.Met1664Leu
• NP_001340878.1:p.Met1653Leu
• NP_001340879.1:p.Met1653Leu
• NP_001340880.1:p.Met1653Leu
• NP_001340881.1:p.Met1653Leu
• NP_001340883.1:p.Met1652Leu
• NP_001340884.1:p.Met1652Leu
• NP_001340886.1:p.Met1636Leu
• NP_001340887.1:p.Met1636Leu
• NP_001340889.1:p.Met1635Leu
• NP_001340890.1:p.Met850Leu
• NP_008851.3:p.Met1653Leu
• LRG_8:g.86355A>C
• NC_000002.11:g.166848795T>G
• NR_148667.2:n.5407A>C

This HGVS expression did not pass validation

Protein change:

M1635L

Links:

dbSNP: rs1689339718

NCBI 1000 Genomes Browser:

rs1689339718

Molecular consequence:

• NM_001165963.4:c.4990A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001165964.3:c.4906A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001202435.3:c.4990A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353948.2:c.4990A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353949.2:c.4957A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353950.2:c.4957A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353951.2:c.4957A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353952.2:c.4957A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353954.2:c.4954A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353955.2:c.4954A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353957.2:c.4906A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353958.2:c.4906A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353960.2:c.4903A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353961.2:c.2548A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006920.6:c.4957A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_148667.2:n.5407A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2