ClinVar

NM_000218.3(KCNQ1):c.959C>A (p.Pro320His)

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: 2583472 (on Assembly GRCh38)
• Chr11: 2604702 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.959C>A (p.Pro320His)

HGVS:

• NC_000011.10:g.2583472C>A
• NG_008935.1:g.143482C>A
• NM_000218.3:c.959C>AMANE SELECT
• NM_001406836.1:c.959C>A
• NM_001406837.1:c.689C>A
• NM_001406838.1:c.515C>A
• NM_181798.2:c.578C>A
• NP_000209.2:p.Pro320His
• NP_000209.2:p.Pro320His
• NP_001393765.1:p.Pro320His
• NP_001393766.1:p.Pro230His
• NP_001393767.1:p.Pro172His
• NP_861463.1:p.Pro193His
• NP_861463.1:p.Pro193His
• LRG_287t1:c.959C>A
• LRG_287t2:c.578C>A
• LRG_287:g.143482C>A
• LRG_287p1:p.Pro320His
• LRG_287p2:p.Pro193His
• NC_000011.9:g.2604702C>A
• NM_000218.2:c.959C>A
• NM_181798.1:c.578C>A
• NR_040711.2:n.852C>A
• P51787:p.Pro320His

This HGVS expression did not pass validation

Protein change:

P172H

Links:

UniProtKB: P51787#VAR_065778; dbSNP: rs199473470

NCBI 1000 Genomes Browser:

rs199473470

Molecular consequence:

• NM_000218.3:c.959C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.959C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.689C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.515C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.578C>A - missense variant - [Sequence Ontology: SO:0001583]