ClinVar

NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly)

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: 2588810 (on Assembly GRCh38)
• Chr11: 2610040 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly)

HGVS:

• NC_000011.10:g.2588810A>G
• NG_008935.1:g.148820A>G
• NM_000218.3:c.1349A>GMANE SELECT
• NM_001406836.1:c.1253A>G
• NM_001406837.1:c.1079A>G
• NM_001406838.1:c.809A>G
• NM_181798.2:c.968A>G
• NP_000209.2:p.Glu450Gly
• NP_000209.2:p.Glu450Gly
• NP_001393765.1:p.Glu418Gly
• NP_001393766.1:p.Glu360Gly
• NP_001393767.1:p.Glu270Gly
• NP_861463.1:p.Glu323Gly
• NP_861463.1:p.Glu323Gly
• LRG_287t1:c.1349A>G
• LRG_287t2:c.968A>G
• LRG_287:g.148820A>G
• LRG_287p1:p.Glu450Gly
• LRG_287p2:p.Glu323Gly
• NC_000011.9:g.2610040A>G
• NM_000218.2:c.1349A>G
• NM_181798.1:c.968A>G
• NR_040711.2:n.1242A>G

This HGVS expression did not pass validation

Protein change:

E270G

Links:

dbSNP: rs1057518902

NCBI 1000 Genomes Browser:

rs1057518902

Molecular consequence:

• NM_000218.3:c.1349A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.1079A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.809A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.968A>G - missense variant - [Sequence Ontology: SO:0001583]