ClinVar

NM_001330260.2(SCN8A):c.1135-48C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51705369 (on Assembly GRCh38)
• Chr12: 52099153 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.1135-48C>T

HGVS:

• NC_000012.12:g.51705369C>T
• NG_021180.3:g.120412C>T
• NM_001177984.3:c.1135-48C>T
• NM_001330260.2:c.1135-48C>TMANE SELECT
• NM_001369788.1:c.1135-48C>T
• NM_014191.4:c.1135-48C>T
• LRG_1389t1:c.1135-48C>T
• LRG_1389t2:c.1135-48C>T
• LRG_1389:g.120412C>T
• NC_000012.11:g.52099153C>T
• NM_014191.3:c.1135-48C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2291265

NCBI 1000 Genomes Browser:

rs2291265

Molecular consequence:

• NM_001177984.3:c.1135-48C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330260.2:c.1135-48C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369788.1:c.1135-48C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_014191.4:c.1135-48C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

69