ClinVar

NM_001330260.2(SCN8A):c.4877G>T (p.Arg1626Leu)

Gene:

SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51806363 (on Assembly GRCh38)
• Chr12: 52200147 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.4877G>T (p.Arg1626Leu)

HGVS:

• NC_000012.12:g.51806363G>T
• NG_021180.3:g.221406G>T
• NM_001177984.3:c.4754G>T
• NM_001330260.2:c.4877G>TMANE SELECT
• NM_001369788.1:c.4754G>T
• NM_014191.4:c.4877G>T
• NP_001171455.1:p.Arg1585Leu
• NP_001317189.1:p.Arg1626Leu
• NP_001356717.1:p.Arg1585Leu
• NP_055006.1:p.Arg1626Leu
• LRG_1389t1:c.4877G>T
• LRG_1389t2:c.4877G>T
• LRG_1389:g.221406G>T
• LRG_1389p1:p.Arg1626Leu
• LRG_1389p2:p.Arg1626Leu
• NC_000012.11:g.52200147G>T
• NG_021180.2:g.220128G>T
• NM_014191.3:c.4877G>T

This HGVS expression did not pass validation

Protein change:

R1585L

Links:

dbSNP: rs886044328

NCBI 1000 Genomes Browser:

rs886044328

Molecular consequence:

• NM_001177984.3:c.4754G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.4877G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.4754G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.4877G>T - missense variant - [Sequence Ontology: SO:0001583]