ClinVar

NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp)

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: 63439689 (on Assembly GRCh38)
• Chr20: 62071042 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp)

HGVS:

• NC_000020.11:g.63439689C>T
• NG_009004.2:g.37952G>A
• NM_001382235.1:c.836G>A
• NM_004518.6:c.836G>A
• NM_172106.3:c.836G>A
• NM_172107.4:c.836G>AMANE SELECT
• NM_172108.5:c.836G>A
• NM_172109.3:c.836G>A
• NP_001369164.1:p.Gly279Asp
• NP_004509.2:p.Gly279Asp
• NP_742104.1:p.Gly279Asp
• NP_742105.1:p.Gly279Asp
• NP_742106.1:p.Gly279Asp
• NP_742107.1:p.Gly279Asp
• NC_000020.10:g.62071042C>T
• NM_172107.2:c.836G>A

This HGVS expression did not pass validation

Protein change:

G279D

Links:

dbSNP: rs2145719551

NCBI 1000 Genomes Browser:

rs2145719551

Molecular consequence:

• NM_001382235.1:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004518.6:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172109.3:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Severe decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0087]
• Severe hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0031]
• Severe slowing of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0015]