ClinVar

NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)

Gene:

KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63444762 (on Assembly GRCh38)
• Chr20: 62076115 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)

HGVS:

• NC_000020.11:g.63444762G>A
• NG_009004.2:g.32879C>T
• NM_004518.6:c.587C>T
• NM_172106.3:c.587C>T
• NM_172107.4:c.587C>TMANE SELECT
• NM_172108.5:c.587C>T
• NM_172109.3:c.587C>T
• NP_004509.2:p.Ala196Val
• NP_742104.1:p.Ala196Val
• NP_742105.1:p.Ala196Val
• NP_742106.1:p.Ala196Val
• NP_742107.1:p.Ala196Val
• NC_000020.10:g.62076115G>A
• NM_172107.2:c.587C>T
• NM_172107.3:c.587C>T

This HGVS expression did not pass validation

Protein change:

A196V

Links:

dbSNP: rs118192199

NCBI 1000 Genomes Browser:

rs118192199

Molecular consequence:

• NM_004518.6:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172109.3:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Mild decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0085]
• Normal rate of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0011]
• Severe depolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0026]