ClinVar

NM_172107.3(KCNQ2):c.1259C>T (p.Pro420Leu)

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: 63419661 (on Assembly GRCh38)
• Chr20: 62051014 (on Assembly GRCh37)

Preferred name:

NM_172107.3(KCNQ2):c.1259C>T (p.Pro420Leu)

HGVS:

• NC_000020.11:g.63419661G>A
• NG_009004.2:g.57980C>T
• NM_004518.5:c.1217+4516C>T
• NM_172107.3:c.1259C>T
• NP_742105.1:p.Pro420Leu
• NC_000020.10:g.62051014G>A
• NM_172107.2:c.1259C>T
• p.Pro420Met

This HGVS expression did not pass validation

Protein change:

P420L

Links:

dbSNP: rs139164500

GMAF:

0.0004(A), 139164500

NCBI 1000 Genomes Browser:

rs139164500

Allele Frequency:

0.00001(A)

Molecular consequence:

• NM_004518.5:c.1217+4516C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_172107.3:c.1259C>T - missense variant - [Sequence Ontology: SO:0001583]