ClinVar

NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys)

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: 63406999 (on Assembly GRCh38)
• Chr20: 62038352 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys)

Other names:

p.Y755C:TAC>TGC

HGVS:

• NC_000020.11:g.63406999T>C
• NG_009004.2:g.70642A>G
• NM_004518.6:c.2180A>G
• NM_172106.3:c.2210A>G
• NM_172107.4:c.2264A>GMANE SELECT
• NM_172108.5:c.2171A>G
• NP_004509.2:p.Tyr727Cys
• NP_742104.1:p.Tyr737Cys
• NP_742105.1:p.Tyr755Cys
• NP_742106.1:p.Tyr724Cys
• NC_000020.10:g.62038352T>C
• NM_172107.2:c.2264A>G
• NM_172107.3:c.2264A>G

This HGVS expression did not pass validation

Protein change:

Y724C

Links:

dbSNP: rs3746366

NCBI 1000 Genomes Browser:

rs3746366

Molecular consequence:

• NM_004518.6:c.2180A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.2210A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.2264A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.2171A>G - 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]