ClinVar

NM_001330260.2(SCN8A):c.*4785TG[10]

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51812212 - 51812213 (on Assembly GRCh38)
• Chr12: 52205996 - 52205997 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.*4785TG[10]

HGVS:

• NC_000012.12:g.51812214TG[10]
• NG_021180.3:g.227257TG[10]
• NM_001177984.3:c.*4785TG[10]
• NM_001330260.2:c.*4785TG[10]MANE SELECT
• NM_001369788.1:c.*4785TG[10]
• NM_014191.4:c.*4785TG[10]
• LRG_1389t1:c.*4785TG[10]
• LRG_1389t2:c.*4785TG[10]
• LRG_1389:g.227257TG[10]
• NC_000012.11:g.52205998TG[10]
• NM_014191.3:c.*4801_*4802dupTG

This HGVS expression did not pass validation

Links:

dbSNP: rs371717199

NCBI 1000 Genomes Browser:

rs371717199

Molecular consequence:

• NM_001177984.3:c.*4785TG[10] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001330260.2:c.*4785TG[10] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001369788.1:c.*4785TG[10] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_014191.4:c.*4785TG[10] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]