ClinVar

NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51699636 (on Assembly GRCh38)
• Chr12: 52093420 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile)

Other names:

p.(Thr258Ile)

HGVS:

• NC_000012.12:g.51699636C>T
• NG_021180.3:g.114679C>T
• NM_001177984.3:c.773C>T
• NM_001330260.2:c.773C>TMANE SELECT
• NM_001369788.1:c.773C>T
• NM_014191.4:c.773C>T
• NP_001171455.1:p.Thr258Ile
• NP_001317189.1:p.Thr258Ile
• NP_001356717.1:p.Thr258Ile
• NP_055006.1:p.Thr258Ile
• LRG_1389t1:c.773C>T
• LRG_1389t2:c.773C>T
• LRG_1389:g.114679C>T
• LRG_1389p1:p.Thr258Ile
• LRG_1389p2:p.Thr258Ile
• NC_000012.11:g.52093420C>T
• NM_014191.3:c.773C>T

This HGVS expression did not pass validation

Protein change:

T258I

Links:

dbSNP: rs1555218630

NCBI 1000 Genomes Browser:

rs1555218630

Molecular consequence:

• NM_001177984.3:c.773C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.773C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.773C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.773C>T - missense variant - [Sequence Ontology: SO:0001583]