ClinVar

NM_001330260.2(SCN8A):c.693C>T (p.Ile231=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51689083 (on Assembly GRCh38)
• Chr12: 52082867 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.693C>T (p.Ile231=)

HGVS:

• NC_000012.12:g.51689083C>T
• NG_021180.3:g.104126C>T
• NM_001177984.3:c.706+234C>T
• NM_001330260.2:c.693C>TMANE SELECT
• NM_001369788.1:c.693C>T
• NM_014191.4:c.706+234C>T
• NP_001317189.1:p.Ile231=
• NP_001356717.1:p.Ile231=
• LRG_1389t1:c.693C>T
• LRG_1389t2:c.706+234C>T
• LRG_1389:g.104126C>T
• LRG_1389p1:p.Ile231=
• NC_000012.11:g.52082867C>T
• NM_014191.3:c.706+234C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1190792467

NCBI 1000 Genomes Browser:

rs1190792467

Molecular consequence:

• NM_001177984.3:c.706+234C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_014191.4:c.706+234C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330260.2:c.693C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369788.1:c.693C>T - synonymous variant - [Sequence Ontology: SO:0001819]