ClinVar

NM_172107.3(KCNQ2):c.640C>T (p.Arg214Trp)

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: 63444709 (on Assembly GRCh38)
• Chr20: 62076062 (on Assembly GRCh37)

Preferred name:

NM_172107.3(KCNQ2):c.640C>T (p.Arg214Trp)

HGVS:

• NC_000020.11:g.63444709G>A
• NG_009004.2:g.32932C>T
• NM_172107.3:c.640C>T
• NP_742105.1:p.Arg214Trp
• NC_000020.10:g.62076062G>A
• NG_009004.1:g.32932C>T
• NM_172107.2:c.640C>T
• O43526:p.Arg214Trp

This HGVS expression did not pass validation

Protein change:

R214W; ARG214TRP

Links:

UniProtKB: O43526#VAR_010929; OMIM: 602235.0005; dbSNP: rs28939684

NCBI 1000 Genomes Browser:

rs28939684

Molecular consequence:

• NM_172107.3:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1