ClinVar

NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51751362 (on Assembly GRCh38)
• Chr12: 52145146 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)

HGVS:

• NC_000012.12:g.51751362A>C
• NG_021180.3:g.166405A>C
• NM_001177984.3:c.2139A>C
• NM_001330260.2:c.2139A>CMANE SELECT
• NM_001369788.1:c.2139A>C
• NM_014191.4:c.2139A>C
• NP_001171455.1:p.Glu713Asp
• NP_001317189.1:p.Glu713Asp
• NP_001356717.1:p.Glu713Asp
• NP_055006.1:p.Glu713Asp
• LRG_1389t1:c.2139A>C
• LRG_1389t2:c.2139A>C
• LRG_1389:g.166405A>C
• LRG_1389p1:p.Glu713Asp
• LRG_1389p2:p.Glu713Asp
• NC_000012.11:g.52145146A>C
• NM_014191.3:c.2139A>C

This HGVS expression did not pass validation

Protein change:

E713D

Links:

dbSNP: rs1218269439

NCBI 1000 Genomes Browser:

rs1218269439

Molecular consequence:

• NM_001177984.3:c.2139A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.2139A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.2139A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.2139A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1