ClinVar

NM_001330260.2(SCN8A):c.156G>A (p.Lys52=)

Genes:

LOC114803470:SCN8A eExon liver enhancer [Gene]
SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51662973 (on Assembly GRCh38)
• Chr12: 52056757 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.156G>A (p.Lys52=)

HGVS:

• NC_000012.12:g.51662973G>A
• NG_021180.3:g.78016G>A
• NG_064646.1:g.337G>A
• NM_001177984.3:c.156G>A
• NM_001330260.2:c.156G>AMANE SELECT
• NM_001369788.1:c.156G>A
• NM_014191.4:c.156G>A
• NP_001171455.1:p.Lys52=
• NP_001317189.1:p.Lys52=
• NP_001356717.1:p.Lys52=
• NP_055006.1:p.Lys52=
• LRG_1389t1:c.156G>A
• LRG_1389t2:c.156G>A
• LRG_1389:g.78016G>A
• LRG_1389p1:p.Lys52=
• LRG_1389p2:p.Lys52=
• NC_000012.11:g.52056757G>A
• NM_014191.2:c.156G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001177984.3:c.156G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330260.2:c.156G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369788.1:c.156G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014191.4:c.156G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1