ClinVar

NM_000218.3(KCNQ1):c.1590+14T>C

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: 2768933 (on Assembly GRCh38)
• Chr11: 2790163 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1590+14T>C

HGVS:

• NC_000011.10:g.2768933T>C
• NG_008935.1:g.328943T>C
• NM_000218.3:c.1590+14T>CMANE SELECT
• NM_001406836.1:c.1494+14T>C
• NM_001406837.1:c.1320+14T>C
• NM_001406838.1:c.1050+14T>C
• NM_181798.2:c.1209+14T>C
• LRG_287t1:c.1590+14T>C
• LRG_287:g.328943T>C
• NC_000011.9:g.2790163T>C
• NM_000218.2:c.1590+14T>C
• c.1590+14T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs11024034

NCBI 1000 Genomes Browser:

rs11024034

Molecular consequence:

• NM_000218.3:c.1590+14T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406836.1:c.1494+14T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406837.1:c.1320+14T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406838.1:c.1050+14T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_181798.2:c.1209+14T>C - intron variant - [Sequence Ontology: SO:0001627]