ClinVar

NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)

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: 2572020 (on Assembly GRCh38)
• Chr11: 2593250 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)

Other names:

p.R231C:CGC>TGC

HGVS:

• NC_000011.10:g.2572020C>T
• NG_008935.1:g.132030C>T
• NM_000218.3:c.691C>TMANE SELECT
• NM_001406836.1:c.691C>T
• NM_001406837.1:c.421C>T
• NM_181798.2:c.310C>T
• NP_000209.2:p.Arg231Cys
• NP_000209.2:p.Arg231Cys
• NP_001393765.1:p.Arg231Cys
• NP_001393766.1:p.Arg141Cys
• NP_861463.1:p.Arg104Cys
• NP_861463.1:p.Arg104Cys
• LRG_287t1:c.691C>T
• LRG_287t2:c.310C>T
• LRG_287:g.132030C>T
• LRG_287p1:p.Arg231Cys
• LRG_287p2:p.Arg104Cys
• NC_000011.9:g.2593250C>T
• NM_000218.2:c.691C>T
• NM_181798.1:c.310C>T
• NR_040711.2:n.584C>T
• P51787:p.Arg231Cys

This HGVS expression did not pass validation

Protein change:

R104C

Links:

UniProtKB: P51787#VAR_074956; dbSNP: rs199473457

NCBI 1000 Genomes Browser:

rs199473457

Molecular consequence:

• NM_000218.3:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.421C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.310C>T - missense variant - [Sequence Ontology: SO:0001583]