ClinVar

NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)

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: 63415080 (on Assembly GRCh38)
• Chr20: 62046433 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)

Other names:

p.V450M:GTG>ATG

HGVS:

• NC_000020.11:g.63415080C>T
• NG_009004.2:g.62561G>A
• NM_001382235.1:c.1294G>A
• NM_004518.6:c.1264G>A
• NM_172106.3:c.1294G>A
• NM_172107.4:c.1348G>AMANE SELECT
• NM_172108.5:c.1258G>A
• NP_001369164.1:p.Val432Met
• NP_004509.2:p.Val422Met
• NP_742104.1:p.Val432Met
• NP_742105.1:p.Val450Met
• NP_742106.1:p.Val420Met
• NC_000020.10:g.62046433C>T
• NM_172107.2:c.1348G>A
• NM_172107.3:c.1348G>A
• NM_172109.1:c.*18665G>A

This HGVS expression did not pass validation

Protein change:

V420M

Links:

dbSNP: rs146492238

NCBI 1000 Genomes Browser:

rs146492238

Molecular consequence:

• NM_001382235.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004518.6:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.1348G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.1258G>A - missense variant - [Sequence Ontology: SO:0001583]