ClinVar

NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)

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: 63414174 (on Assembly GRCh38)
• Chr20: 62045527 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)

Other names:

p.E515D:GAG>GAC

HGVS:

• NC_000020.11:g.63414174C>G
• NG_009004.2:g.63467G>C
• NM_004518.6:c.1461G>C
• NM_172106.3:c.1491G>C
• NM_172107.4:c.1545G>CMANE SELECT
• NM_172108.5:c.1452G>C
• NP_004509.2:p.Glu487Asp
• NP_742104.1:p.Glu497Asp
• NP_742105.1:p.Glu515Asp
• NP_742106.1:p.Glu484Asp
• NC_000020.10:g.62045527C>G
• NM_172107.2:c.1545G>C

This HGVS expression did not pass validation

Protein change:

E484D

Links:

dbSNP: rs117067974

NCBI 1000 Genomes Browser:

rs117067974

Molecular consequence:

• NM_004518.6:c.1461G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.1491G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.1545G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Normal peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0096]
• Normal rate of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0011]
• Normal voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0032]