ClinVar

NM_000218.3(KCNQ1):c.683+5G>A

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: 2571408 (on Assembly GRCh38)
• Chr11: 2592638 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.683+5G>A

HGVS:

• NC_000011.10:g.2571408G>A
• NG_008935.1:g.131418G>A
• NM_000218.3:c.683+5G>AMANE SELECT
• NM_001406836.1:c.683+5G>A
• NM_001406837.1:c.413+5G>A
• NM_001406838.1:c.478-12027G>A
• NM_181798.2:c.302+5G>A
• LRG_287t1:c.683+5G>A
• LRG_287:g.131418G>A
• NC_000011.9:g.2592638G>A
• NM_000218.2:c.683+5G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs397508122

NCBI 1000 Genomes Browser:

rs397508122

Molecular consequence:

• NM_000218.3:c.683+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406836.1:c.683+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406837.1:c.413+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406838.1:c.478-12027G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_181798.2:c.302+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]