ClinVar

NM_001330260.2(SCN8A):c.5108C>A (p.Thr1703Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51806594 (on Assembly GRCh38)
• Chr12: 52200378 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.5108C>A (p.Thr1703Asn)

HGVS:

• NC_000012.12:g.51806594C>A
• NG_021180.3:g.221637C>A
• NM_001177984.3:c.4985C>A
• NM_001330260.2:c.5108C>AMANE SELECT
• NM_001369788.1:c.4985C>A
• NM_014191.4:c.5108C>A
• NP_001171455.1:p.Thr1662Asn
• NP_001317189.1:p.Thr1703Asn
• NP_001356717.1:p.Thr1662Asn
• NP_055006.1:p.Thr1703Asn
• LRG_1389t1:c.5108C>A
• LRG_1389t2:c.5108C>A
• LRG_1389:g.221637C>A
• LRG_1389p1:p.Thr1703Asn
• LRG_1389p2:p.Thr1703Asn
• NC_000012.11:g.52200378C>A
• NM_014191.3:c.5108C>A

This HGVS expression did not pass validation

Protein change:

T1662N

Links:

dbSNP: rs2138942878

NCBI 1000 Genomes Browser:

rs2138942878

Molecular consequence:

• NM_001177984.3:c.4985C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.5108C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.4985C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.5108C>A - missense variant - [Sequence Ontology: SO:0001583]