ClinVar

NM_000218.3(KCNQ1):c.987C>T (p.Ala329=)

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: 2583500 (on Assembly GRCh38)
• Chr11: 2604730 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.987C>T (p.Ala329=)

HGVS:

• NC_000011.10:g.2583500C>T
• NG_008935.1:g.143510C>T
• NM_000218.3:c.987C>TMANE SELECT
• NM_001406836.1:c.987C>T
• NM_001406837.1:c.717C>T
• NM_001406838.1:c.543C>T
• NM_181798.2:c.606C>T
• NP_000209.2:p.Ala329=
• NP_000209.2:p.Ala329=
• NP_001393765.1:p.Ala329=
• NP_001393766.1:p.Ala239=
• NP_001393767.1:p.Ala181=
• NP_861463.1:p.Ala202=
• NP_861463.1:p.Ala202=
• LRG_287t1:c.987C>T
• LRG_287t2:c.606C>T
• LRG_287:g.143510C>T
• LRG_287p1:p.Ala329=
• LRG_287p2:p.Ala202=
• NC_000011.9:g.2604730C>T
• NM_000218.2:c.987C>T
• NM_181798.1:c.606C>T
• NR_040711.2:n.880C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000218.3:c.987C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406836.1:c.987C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406837.1:c.717C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406838.1:c.543C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181798.2:c.606C>T - synonymous variant - [Sequence Ontology: SO:0001819]