ClinVar

NM_000218.3(KCNQ1):c.1393+27282A>C

Genes:

KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2616136 (on Assembly GRCh38)
• Chr11: 2637366 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1393+27282A>C

HGVS:

• NC_000011.10:g.2616136A>C
• NG_008935.1:g.176146A>C
• NG_016178.2:g.88863T>G
• NM_000218.3:c.1393+27282A>CMANE SELECT
• NM_001406836.1:c.1297+27282A>C
• NM_001406837.1:c.1123+27282A>C
• NM_001406838.1:c.853+27282A>C
• NM_181798.2:c.1012+27282A>C
• LRG_1052t1:n.83863T>G
• LRG_1052:g.88863T>G
• LRG_287:g.176146A>C
• NC_000011.9:g.2637366A>C
• NR_002728.3:n.83863T>G
• NR_002728.4:n.83859T>GMANE SELECT

This HGVS expression did not pass validation

Molecular consequence:

• NM_000218.3:c.1393+27282A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406836.1:c.1297+27282A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406837.1:c.1123+27282A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406838.1:c.853+27282A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_181798.2:c.1012+27282A>C - intron variant - [Sequence Ontology: SO:0001627]
• NR_002728.4:n.83859T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1