ClinVar

NM_172107.4(KCNQ2):c.1329C>G (p.Val443=)

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: 63415099 (on Assembly GRCh38)
• Chr20: 62046452 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.1329C>G (p.Val443=)

HGVS:

• NC_000020.11:g.63415099G>C
• NG_009004.2:g.62542C>G
• NM_004518.6:c.1245C>G
• NM_172106.3:c.1275C>G
• NM_172107.4:c.1329C>GMANE SELECT
• NM_172108.5:c.1248-9C>G
• NP_004509.2:p.Val415=
• NP_742104.1:p.Val425=
• NP_742105.1:p.Val443=
• NC_000020.10:g.62046452G>C
• NM_172107.2:c.1329C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs934839370

NCBI 1000 Genomes Browser:

rs934839370

Molecular consequence:

• NM_172108.5:c.1248-9C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_004518.6:c.1245C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172106.3:c.1275C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172107.4:c.1329C>G - synonymous variant - [Sequence Ontology: SO:0001819]