ClinVar

NM_172107.4(KCNQ2):c.2068G>A (p.Val690Met)

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: 63407195 (on Assembly GRCh38)
• Chr20: 62038548 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.2068G>A (p.Val690Met)

HGVS:

• NC_000020.11:g.63407195C>T
• NG_009004.2:g.70446G>A
• NM_004518.6:c.1984G>A
• NM_172106.3:c.2014G>A
• NM_172107.4:c.2068G>AMANE SELECT
• NM_172108.5:c.1975G>A
• NP_004509.2:p.Val662Met
• NP_742104.1:p.Val672Met
• NP_742105.1:p.Val690Met
• NP_742106.1:p.Val659Met
• NC_000020.10:g.62038548C>T

This HGVS expression did not pass validation

Protein change:

V659M

Links:

dbSNP: rs373902907

NCBI 1000 Genomes Browser:

rs373902907

Molecular consequence:

• NM_004518.6:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.2014G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1