ClinVar

NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)

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: 63406650 (on Assembly GRCh38)
• Chr20: 62038003 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)

Other names:

p.R871S:AGG>AGT

HGVS:

• NC_000020.11:g.63406650C>A
• NG_009004.2:g.70991G>T
• NM_004518.6:c.2529G>T
• NM_172106.3:c.2559G>T
• NM_172107.4:c.2613G>TMANE SELECT
• NM_172108.5:c.2520G>T
• NP_004509.2:p.Arg843Ser
• NP_742104.1:p.Arg853Ser
• NP_742105.1:p.Arg871Ser
• NP_742106.1:p.Arg840Ser
• NC_000020.10:g.62038003C>A
• NM_172107.2:c.2613G>T

This HGVS expression did not pass validation

Protein change:

R840S

Links:

dbSNP: rs587780369

NCBI 1000 Genomes Browser:

rs587780369

Molecular consequence:

• NM_004518.6:c.2529G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.2559G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.2613G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.2520G>T - missense variant - [Sequence Ontology: SO:0001583]