ClinVar

NM_172107.4(KCNQ2):c.2469C>T (p.Ala823=)

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: 63406794 (on Assembly GRCh38)
• Chr20: 62038147 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.2469C>T (p.Ala823=)

HGVS:

• NC_000020.11:g.63406794G>A
• NG_009004.2:g.70847C>T
• NM_004518.6:c.2385C>T
• NM_172106.3:c.2415C>T
• NM_172107.2:c.2469C>T
• NM_172107.4:c.2469C>TMANE SELECT
• NM_172108.5:c.2376C>T
• NP_004509.2:p.Ala795=
• NP_742104.1:p.Ala805=
• NP_742105.1:p.Ala823=
• NP_742106.1:p.Ala792=
• NC_000020.10:g.62038147G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs758071891

NCBI 1000 Genomes Browser:

rs758071891

Molecular consequence:

• NM_004518.6:c.2385C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172106.3:c.2415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172107.4:c.2469C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172108.5:c.2376C>T - synonymous variant - [Sequence Ontology: SO:0001819]