ClinVar

NM_172107.4(KCNQ2):c.2463C>T (p.Tyr821=)

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: 63406800 (on Assembly GRCh38)
• Chr20: 62038153 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.2463C>T (p.Tyr821=)

HGVS:

• NC_000020.11:g.63406800G>A
• NG_009004.2:g.70841C>T
• NM_001382235.1:c.2517C>T
• NM_004518.6:c.2379C>T
• NM_172106.3:c.2409C>T
• NM_172107.4:c.2463C>TMANE SELECT
• NM_172108.5:c.2370C>T
• NP_001369164.1:p.Tyr839=
• NP_004509.2:p.Tyr793=
• NP_742104.1:p.Tyr803=
• NP_742105.1:p.Tyr821=
• NP_742106.1:p.Tyr790=
• NC_000020.10:g.62038153G>A
• NM_172107.2:c.2463C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs781323405

NCBI 1000 Genomes Browser:

rs781323405

Molecular consequence:

• NM_001382235.1:c.2517C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004518.6:c.2379C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172106.3:c.2409C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172107.4:c.2463C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172108.5:c.2370C>T - synonymous variant - [Sequence Ontology: SO:0001819]