ClinVar

NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)

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: 2778003 (on Assembly GRCh38)
• Chr11: 2799233 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)

Other names:

p.T587M:ACG>ATG

HGVS:

• NC_000011.10:g.2778003C>T
• NG_008935.1:g.338013C>T
• NM_000218.3:c.1760C>TMANE SELECT
• NM_001406836.1:c.1664C>T
• NM_001406837.1:c.1490C>T
• NM_001406838.1:c.1220C>T
• NM_001406839.1:c.272C>T
• NM_181798.2:c.1379C>T
• NP_000209.2:p.Thr587Met
• NP_000209.2:p.Thr587Met
• NP_001393765.1:p.Thr555Met
• NP_001393766.1:p.Thr497Met
• NP_001393767.1:p.Thr407Met
• NP_001393768.1:p.Thr91Met
• NP_861463.1:p.Thr460Met
• NP_861463.1:p.Thr460Met
• LRG_287t1:c.1760C>T
• LRG_287t2:c.1379C>T
• LRG_287:g.338013C>T
• LRG_287p1:p.Thr587Met
• LRG_287p2:p.Thr460Met
• NC_000011.9:g.2799233C>T
• NM_000218.2:c.1760C>T
• NM_181798.1:c.1379C>T
• NR_040711.2:n.1653C>T
• P51787:p.Thr587Met

This HGVS expression did not pass validation

Protein change:

T407M; THR587MET

Links:

UniProtKB: P51787#VAR_008951; OMIM: 607542.0027; dbSNP: rs120074189

NCBI 1000 Genomes Browser:

rs120074189

Molecular consequence:

• NM_000218.3:c.1760C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.1664C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.1490C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.1220C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406839.1:c.272C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.1379C>T - missense variant - [Sequence Ontology: SO:0001583]