ClinVar

NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)

Gene:

KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2588816 (on Assembly GRCh38)
• Chr11: 2610046 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)

Other names:

p.R452Q:CGG>CAG

HGVS:

• NC_000011.10:g.2588816G>A
• NG_008935.1:g.148826G>A
• NM_000218.3:c.1355G>AMANE SELECT
• NM_001406836.1:c.1259G>A
• NM_001406837.1:c.1085G>A
• NM_001406838.1:c.815G>A
• NM_181798.2:c.974G>A
• NP_000209.2:p.Arg452Gln
• NP_000209.2:p.Arg452Gln
• NP_001393765.1:p.Arg420Gln
• NP_001393766.1:p.Arg362Gln
• NP_001393767.1:p.Arg272Gln
• NP_861463.1:p.Arg325Gln
• NP_861463.1:p.Arg325Gln
• LRG_287t1:c.1355G>A
• LRG_287t2:c.974G>A
• LRG_287:g.148826G>A
• LRG_287p1:p.Arg452Gln
• LRG_287p2:p.Arg325Gln
• NC_000011.9:g.2610046G>A
• NM_000218.2:c.1355G>A
• NM_181798.1:c.974G>A
• NR_040711.2:n.1248G>A

This HGVS expression did not pass validation

Protein change:

R272Q

Links:

dbSNP: rs145229963

NCBI 1000 Genomes Browser:

rs145229963

Molecular consequence:

• NM_000218.3:c.1355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.1085G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.815G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]