ClinVar

NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)

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: 2768882 (on Assembly GRCh38)
• Chr11: 2790112 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)

HGVS:

• NC_000011.10:g.2768882G>A
• NG_008935.1:g.328892G>A
• NM_000218.3:c.1553G>AMANE SELECT
• NM_001406836.1:c.1457G>A
• NM_001406837.1:c.1283G>A
• NM_001406838.1:c.1013G>A
• NM_181798.2:c.1172G>A
• NP_000209.2:p.Arg518Gln
• NP_000209.2:p.Arg518Gln
• NP_001393765.1:p.Arg486Gln
• NP_001393766.1:p.Arg428Gln
• NP_001393767.1:p.Arg338Gln
• NP_861463.1:p.Arg391Gln
• NP_861463.1:p.Arg391Gln
• LRG_287t1:c.1553G>A
• LRG_287t2:c.1172G>A
• LRG_287:g.328892G>A
• LRG_287p1:p.Arg518Gln
• LRG_287p2:p.Arg391Gln
• NC_000011.9:g.2790112G>A
• NM_000218.2:c.1553G>A
• NM_181798.1:c.1172G>A
• NR_040711.2:n.1446G>A
• P51787:p.Arg518Gln

This HGVS expression did not pass validation

Protein change:

R338Q

Links:

UniProtKB: P51787#VAR_075011; dbSNP: rs145974930

NCBI 1000 Genomes Browser:

rs145974930

Molecular consequence:

• NM_000218.3:c.1553G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.1457G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.1283G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]