ClinVar

NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51806351 (on Assembly GRCh38)
• Chr12: 52200135 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp)

HGVS:

• NC_000012.12:g.51806351C>A
• NG_021180.3:g.221394C>A
• NM_001177984.3:c.4742C>A
• NM_001330260.2:c.4865C>AMANE SELECT
• NM_001369788.1:c.4742C>A
• NM_014191.3:c.4865C>A
• NM_014191.4:c.4865C>A
• NP_001171455.1:p.Ala1581Asp
• NP_001317189.1:p.Ala1622Asp
• NP_001356717.1:p.Ala1581Asp
• NP_055006.1:p.Ala1622Asp
• LRG_1389t1:c.4865C>A
• LRG_1389t2:c.4865C>A
• LRG_1389:g.221394C>A
• LRG_1389p1:p.Ala1622Asp
• LRG_1389p2:p.Ala1622Asp
• NC_000012.11:g.52200135C>A
• NM_014191.2:c.4865C>A

This HGVS expression did not pass validation

Protein change:

A1581D

Links:

dbSNP: rs1555230924

NCBI 1000 Genomes Browser:

rs1555230924

Molecular consequence:

• NM_001177984.3:c.4742C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.4865C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.4742C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.4865C>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Acceleration of recovery from fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0053]
• Increase in persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0040]
• Increase in slope of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0073]
• Moderate depolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0025]
• Normal peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0096]
• Normal slope of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0036]
• Overall mixed or unclear functional effect not able to be clearly categorized as Gain- or Loss-of-Function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0145]
• Severe depolarizing shift of voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0064]
• Severe slowing of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0051]

Observations:

1