ClinVar

NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51769039 (on Assembly GRCh38)
• Chr12: 52162823 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)

Other names:

p.R1026C:CGT>TGT

HGVS:

• NC_000012.12:g.51769039C>T
• NG_021180.3:g.184082C>T
• NM_001177984.3:c.3076C>T
• NM_001330260.2:c.3076C>TMANE SELECT
• NM_001369788.1:c.3076C>T
• NM_014191.4:c.3076C>T
• NM_014191.4:c.3076C>T
• NP_001171455.1:p.Arg1026Cys
• NP_001317189.1:p.Arg1026Cys
• NP_001356717.1:p.Arg1026Cys
• NP_055006.1:p.Arg1026Cys
• LRG_1389t1:c.3076C>T
• LRG_1389t2:c.3076C>T
• LRG_1389:g.184082C>T
• LRG_1389p1:p.Arg1026Cys
• LRG_1389p2:p.Arg1026Cys
• NC_000012.11:g.52162823C>T
• NM_014191.2:c.3076C>T
• NM_014191.3:c.3076C>T
• p.Arg1026Cys

This HGVS expression did not pass validation

Protein change:

R1026C

Links:

dbSNP: rs117217073

NCBI 1000 Genomes Browser:

rs117217073

Molecular consequence:

• NM_001177984.3:c.3076C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.3076C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.3076C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.3076C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

92