ClinVar

NM_000218.3(KCNQ1):c.1786G>A (p.Glu596Lys)

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: 2778029 (on Assembly GRCh38)
• Chr11: 2799259 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1786G>A (p.Glu596Lys)

HGVS:

• NC_000011.10:g.2778029G>A
• NG_008935.1:g.338039G>A
• NM_000218.3:c.1786G>AMANE SELECT
• NM_001406836.1:c.1690G>A
• NM_001406837.1:c.1516G>A
• NM_001406838.1:c.1246G>A
• NM_001406839.1:c.298G>A
• NM_181798.2:c.1405G>A
• NP_000209.2:p.Glu596Lys
• NP_000209.2:p.Glu596Lys
• NP_001393765.1:p.Glu564Lys
• NP_001393766.1:p.Glu506Lys
• NP_001393767.1:p.Glu416Lys
• NP_001393768.1:p.Glu100Lys
• NP_861463.1:p.Glu469Lys
• NP_861463.1:p.Glu469Lys
• LRG_287t1:c.1786G>A
• LRG_287t2:c.1405G>A
• LRG_287:g.338039G>A
• LRG_287p1:p.Glu596Lys
• LRG_287p2:p.Glu469Lys
• NC_000011.9:g.2799259G>A
• NM_000218.2:c.1786G>A
• NM_181798.1:c.1405G>A
• NR_040711.2:n.1679G>A
• P51787:p.Glu596Lys

This HGVS expression did not pass validation

Protein change:

E100K

Links:

UniProtKB: P51787#VAR_075030; dbSNP: rs199472816

NCBI 1000 Genomes Browser:

rs199472816

Molecular consequence:

• NM_000218.3:c.1786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.1690G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.1516G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406839.1:c.298G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.1405G>A - missense variant - [Sequence Ontology: SO:0001583]