ClinVar

NM_000218.3(KCNQ1):c.1529A>C (p.His510Pro)

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: 2768858 (on Assembly GRCh38)
• Chr11: 2790088 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1529A>C (p.His510Pro)

HGVS:

• NC_000011.10:g.2768858A>C
• NG_008935.1:g.328868A>C
• NM_000218.3:c.1529A>CMANE SELECT
• NM_001406836.1:c.1433A>C
• NM_001406837.1:c.1259A>C
• NM_001406838.1:c.989A>C
• NM_181798.2:c.1148A>C
• NP_000209.2:p.His510Pro
• NP_000209.2:p.His510Pro
• NP_001393765.1:p.His478Pro
• NP_001393766.1:p.His420Pro
• NP_001393767.1:p.His330Pro
• NP_861463.1:p.His383Pro
• NP_861463.1:p.His383Pro
• LRG_287t1:c.1529A>C
• LRG_287t2:c.1148A>C
• LRG_287:g.328868A>C
• LRG_287p1:p.His510Pro
• LRG_287p2:p.His383Pro
• NC_000011.9:g.2790088A>C
• NM_000218.2:c.1529A>C
• NM_181798.1:c.1148A>C
• NR_040711.2:n.1422A>C

This HGVS expression did not pass validation

Protein change:

H330P

Links:

dbSNP: rs1322261590

NCBI 1000 Genomes Browser:

rs1322261590

Molecular consequence:

• NM_000218.3:c.1529A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.1433A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.1259A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.989A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.1148A>C - missense variant - [Sequence Ontology: SO:0001583]