ClinVar

NM_000218.3(KCNQ1):c.387-7C>T

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: 2527921 (on Assembly GRCh38)
• Chr11: 2549151 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.387-7C>T

HGVS:

• NC_000011.10:g.2527921C>T
• NG_008935.1:g.87931C>T
• NM_000218.3:c.387-7C>TMANE SELECT
• NM_001406836.1:c.387-7C>T
• NM_001406837.1:c.117-7C>T
• NM_001406838.1:c.387-7C>T
• NM_181798.2:c.6-7C>T
• LRG_287t1:c.387-7C>T
• LRG_287:g.87931C>T
• NC_000011.9:g.2549151C>T
• NM_000218.2:c.387-7C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201682200

NCBI 1000 Genomes Browser:

rs201682200

Molecular consequence:

• NM_000218.3:c.387-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406836.1:c.387-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406837.1:c.117-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406838.1:c.387-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_181798.2:c.6-7C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1