ClinVar

NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val)

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: 63442510 (on Assembly GRCh38)
• Chr20: 62073863 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val)

HGVS:

• NC_000020.11:g.63442510T>C
• NG_009004.2:g.35131A>G
• NM_004518.6:c.712A>G
• NM_172106.3:c.712A>G
• NM_172107.4:c.712A>GMANE SELECT
• NM_172108.5:c.712A>G
• NM_172109.3:c.712A>G
• NP_004509.2:p.Ile238Val
• NP_742104.1:p.Ile238Val
• NP_742105.1:p.Ile238Val
• NP_742106.1:p.Ile238Val
• NP_742107.1:p.Ile238Val
• NC_000020.10:g.62073863T>C
• NM_172107.2:c.712A>G

This HGVS expression did not pass validation

Protein change:

I238V

Links:

dbSNP: rs747050726

NCBI 1000 Genomes Browser:

rs747050726

Molecular consequence:

• NM_004518.6:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172109.3:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• 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]
• Severe decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0087]