ClinVar

NM_172107.4(KCNQ2):c.2377G>A (p.Val793Met)

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: 63406886 (on Assembly GRCh38)
• Chr20: 62038239 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.2377G>A (p.Val793Met)

HGVS:

• NC_000020.11:g.63406886C>T
• NG_009004.2:g.70755G>A
• NM_001382235.1:c.2431G>A
• NM_004518.6:c.2293G>A
• NM_172106.3:c.2323G>A
• NM_172107.4:c.2377G>AMANE SELECT
• NM_172108.5:c.2284G>A
• NP_001369164.1:p.Val811Met
• NP_004509.2:p.Val765Met
• NP_742104.1:p.Val775Met
• NP_742105.1:p.Val793Met
• NP_742106.1:p.Val762Met
• NC_000020.10:g.62038239C>T

This HGVS expression did not pass validation

Protein change:

V762M

Links:

dbSNP: rs377227909

NCBI 1000 Genomes Browser:

rs377227909

Molecular consequence:

• NM_001382235.1:c.2431G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004518.6:c.2293G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.2323G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.2377G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.2284G>A - missense variant - [Sequence Ontology: SO:0001583]