ClinVar

NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)

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: 2583457 (on Assembly GRCh38)
• Chr11: 2604687 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)

Other names:

p.Y315C:TAT>TGT

HGVS:

• NC_000011.10:g.2583457A>G
• NG_008935.1:g.143467A>G
• NM_000218.3:c.944A>GMANE SELECT
• NM_001406836.1:c.944A>G
• NM_001406837.1:c.674A>G
• NM_001406838.1:c.500A>G
• NM_181798.2:c.563A>G
• NP_000209.2:p.Tyr315Cys
• NP_000209.2:p.Tyr315Cys
• NP_001393765.1:p.Tyr315Cys
• NP_001393766.1:p.Tyr225Cys
• NP_001393767.1:p.Tyr167Cys
• NP_861463.1:p.Tyr188Cys
• NP_861463.1:p.Tyr188Cys
• LRG_287t1:c.944A>G
• LRG_287t2:c.563A>G
• LRG_287:g.143467A>G
• LRG_287p1:p.Tyr315Cys
• LRG_287p2:p.Tyr188Cys
• NC_000011.9:g.2604687A>G
• NM_000218.2:c.944A>G
• NM_181798.1:c.563A>G
• NR_040711.2:n.837A>G
• P51787:p.Tyr315Cys

This HGVS expression did not pass validation

Protein change:

Y167C

Links:

UniProtKB: P51787#VAR_008946; dbSNP: rs74462309

NCBI 1000 Genomes Browser:

rs74462309

Molecular consequence:

• NM_000218.3:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.674A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.500A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.563A>G - missense variant - [Sequence Ontology: SO:0001583]