ClinVar

NM_000218.3(KCNQ1):c.546C>T (p.Ser182=)

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: 2570696 (on Assembly GRCh38)
• Chr11: 2591926 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.546C>T (p.Ser182=)

HGVS:

• NC_000011.10:g.2570696C>T
• NG_008935.1:g.130706C>T
• NM_000218.3:c.546C>TMANE SELECT
• NM_001406836.1:c.546C>T
• NM_001406837.1:c.276C>T
• NM_001406838.1:c.478-12739C>T
• NM_181798.2:c.165C>T
• NP_000209.2:p.Ser182=
• NP_000209.2:p.Ser182=
• NP_001393765.1:p.Ser182=
• NP_001393766.1:p.Ser92=
• NP_861463.1:p.Ser55=
• NP_861463.1:p.Ser55=
• LRG_287t1:c.546C>T
• LRG_287t2:c.165C>T
• LRG_287:g.130706C>T
• LRG_287p1:p.Ser182=
• LRG_287p2:p.Ser55=
• NC_000011.9:g.2591926C>T
• NM_000218.2:c.546C>T
• NM_181798.1:c.165C>T
• NR_040711.2:n.439C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2133727239

NCBI 1000 Genomes Browser:

rs2133727239

Molecular consequence:

• NM_001406838.1:c.478-12739C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000218.3:c.546C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406836.1:c.546C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406837.1:c.276C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181798.2:c.165C>T - synonymous variant - [Sequence Ontology: SO:0001819]