ClinVar

NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)

Genes:

KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 2847958 (on Assembly GRCh38)
• Chr11: 2869188 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)

Other names:

p.Y662Y:TAC>TAT

HGVS:

• NC_000011.10:g.2847958C>T
• NG_008935.1:g.407968C>T
• NM_000218.3:c.1986C>TMANE SELECT
• NM_001406836.1:c.1890C>T
• NM_001406837.1:c.1716C>T
• NM_001406838.1:c.1446C>T
• NM_001406839.1:c.498C>T
• NM_181798.2:c.1605C>T
• NP_000209.2:p.Tyr662=
• NP_000209.2:p.Tyr662=
• NP_001393765.1:p.Tyr630=
• NP_001393766.1:p.Tyr572=
• NP_001393767.1:p.Tyr482=
• NP_001393768.1:p.Tyr166=
• NP_861463.1:p.Tyr535=
• NP_861463.1:p.Tyr535=
• LRG_287t1:c.1986C>T
• LRG_287t2:c.1605C>T
• LRG_287:g.407968C>T
• LRG_287p1:p.Tyr662=
• LRG_287p2:p.Tyr535=
• NC_000011.9:g.2869188C>T
• NM_000218.2:c.1986C>T
• NM_181798.1:c.1605C>T
• NR_040711.2:n.1879C>T
• c.1986C>T
• p.Tyr662Tyr

This HGVS expression did not pass validation

Links:

dbSNP: rs11601907

NCBI 1000 Genomes Browser:

rs11601907

Molecular consequence:

• NM_000218.3:c.1986C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406836.1:c.1890C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406837.1:c.1716C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406838.1:c.1446C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406839.1:c.498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181798.2:c.1605C>T - synonymous variant - [Sequence Ontology: SO:0001819]