ClinVar

NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)

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: 2768917 (on Assembly GRCh38)
• Chr11: 2790147 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)

Other names:

p.Q530*:CAG>TAG; p.Gln530*

HGVS:

• NC_000011.10:g.2768917C>T
• NG_008935.1:g.328927C>T
• NM_000218.3:c.1588C>TMANE SELECT
• NM_001406836.1:c.1492C>T
• NM_001406837.1:c.1318C>T
• NM_001406838.1:c.1048C>T
• NM_181798.2:c.1207C>T
• NP_000209.2:p.Gln530Ter
• NP_000209.2:p.Gln530Ter
• NP_001393765.1:p.Gln498Ter
• NP_001393766.1:p.Gln440Ter
• NP_001393767.1:p.Gln350Ter
• NP_861463.1:p.Gln403Ter
• NP_861463.1:p.Gln403Ter
• LRG_287t1:c.1588C>T
• LRG_287t2:c.1207C>T
• LRG_287:g.328927C>T
• LRG_287p1:p.Gln530Ter
• LRG_287p2:p.Gln403Ter
• NC_000011.9:g.2790147C>T
• NM_000218.2:c.1588C>T
• NM_181798.1:c.1207C>T
• NR_040711.2:n.1481C>T

This HGVS expression did not pass validation

Protein change:

Q350*

Links:

dbSNP: rs397508097

NCBI 1000 Genomes Browser:

rs397508097

Molecular consequence:

• NM_000218.3:c.1588C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001406836.1:c.1492C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001406837.1:c.1318C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001406838.1:c.1048C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_181798.2:c.1207C>T - nonsense - [Sequence Ontology: SO:0001587]