ClinVar

NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)

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: 2570664 (on Assembly GRCh38)
• Chr11: 2591894 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)

HGVS:

• NC_000011.10:g.2570664G>A
• NG_008935.1:g.130674G>A
• NM_000218.3:c.514G>AMANE SELECT
• NM_001406836.1:c.514G>A
• NM_001406837.1:c.244G>A
• NM_181798.2:c.133G>A
• NP_000209.2:p.Val172Met
• NP_000209.2:p.Val172Met
• NP_001393765.1:p.Val172Met
• NP_001393766.1:p.Val82Met
• NP_861463.1:p.Val45Met
• NP_861463.1:p.Val45Met
• LRG_287t1:c.514G>A
• LRG_287t2:c.133G>A
• LRG_287:g.130674G>A
• LRG_287p1:p.Val172Met
• LRG_287p2:p.Val45Met
• NC_000011.9:g.2591894G>A
• NM_000218.2:c.514G>A
• NM_181798.1:c.133G>A
• NR_040711.2:n.407G>A
• P51787:p.Val172Met

This HGVS expression did not pass validation

Protein change:

V172M

Links:

UniProtKB: P51787#VAR_074940; dbSNP: rs199472694

NCBI 1000 Genomes Browser:

rs199472694

Molecular consequence:

• NM_000218.3:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.133G>A - missense variant - [Sequence Ontology: SO:0001583]