ClinVar

NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp)

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: 2572848 (on Assembly GRCh38)
• Chr11: 2594078 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp)

HGVS:

• NC_000011.10:g.2572848G>C
• NG_008935.1:g.132858G>C
• NM_000218.3:c.783G>CMANE SELECT
• NM_001406836.1:c.783G>C
• NM_001406837.1:c.513G>C
• NM_181798.2:c.402G>C
• NP_000209.2:p.Glu261Asp
• NP_000209.2:p.Glu261Asp
• NP_001393765.1:p.Glu261Asp
• NP_001393766.1:p.Glu171Asp
• NP_861463.1:p.Glu134Asp
• NP_861463.1:p.Glu134Asp
• LRG_287t1:c.783G>C
• LRG_287t2:c.402G>C
• LRG_287:g.132858G>C
• LRG_287p1:p.Glu261Asp
• LRG_287p2:p.Glu134Asp
• NC_000011.9:g.2594078G>C
• NM_000218.2:c.783G>C
• NM_181798.1:c.402G>C
• NR_040711.2:n.676G>C
• P51787:p.Glu261Asp

This HGVS expression did not pass validation

Protein change:

E134D

Links:

UniProtKB: P51787#VAR_008944; dbSNP: rs199472721

NCBI 1000 Genomes Browser:

rs199472721

Molecular consequence:

• NM_000218.3:c.783G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.783G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.513G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.402G>C - missense variant - [Sequence Ontology: SO:0001583]