ClinVar

NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu)

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: 63407011 (on Assembly GRCh38)
• Chr20: 62038364 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu)

HGVS:

• NC_000020.11:g.63407011G>A
• NG_009004.2:g.70630C>T
• NM_004518.6:c.2168C>T
• NM_172106.3:c.2198C>T
• NM_172107.4:c.2252C>TMANE SELECT
• NM_172108.5:c.2159C>T
• NP_004509.2:p.Ser723Leu
• NP_742104.1:p.Ser733Leu
• NP_742105.1:p.Ser751Leu
• NP_742106.1:p.Ser720Leu
• NC_000020.10:g.62038364G>A
• NM_172106.2:c.2198C>T
• NM_172107.2:c.2252C>T

This HGVS expression did not pass validation

Protein change:

S720L

Links:

dbSNP: rs774002673

NCBI 1000 Genomes Browser:

rs774002673

Molecular consequence:

• NM_004518.6:c.2168C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.2198C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.2252C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.2159C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Increase in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0092]
• Mild hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0029]
• Mild slowing of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0013]

Observations:

1