ClinVar

NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg)

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: 63438632 (on Assembly GRCh38)
• Chr20: 62069985 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg)

HGVS:

• NC_000020.11:g.63438632A>C
• NG_009004.2:g.39009T>G
• NM_004518.6:c.1016T>G
• NM_172106.3:c.1016T>G
• NM_172107.4:c.1016T>GMANE SELECT
• NM_172108.5:c.1016T>G
• NM_172109.3:c.1016T>G
• NP_004509.2:p.Leu339Arg
• NP_742104.1:p.Leu339Arg
• NP_742105.1:p.Leu339Arg
• NP_742106.1:p.Leu339Arg
• NP_742107.1:p.Leu339Arg
• NC_000020.10:g.62069985A>C
• NM_172107.2:c.1016T>G
• NM_172107.3:c.1016T>G

This HGVS expression did not pass validation

Protein change:

L339R

Links:

dbSNP: rs118192217

NCBI 1000 Genomes Browser:

rs118192217

Molecular consequence:

• NM_004518.6:c.1016T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.1016T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.1016T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.1016T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_172109.3:c.1016T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1