ClinVar

NM_000218.3(KCNQ1):c.1514+20395GAGT[7]

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:

Microsatellite

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2682476 - 2682479 (on Assembly GRCh38)
• Chr11: 2703706 - 2703709 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1514+20395GAGT[7]

HGVS:

• NC_000011.10:g.2682476GAGT[7]
• NG_008935.1:g.242486GAGT[7]
• NG_016178.2:g.22492ACTC[7]
• NM_000218.3:c.1514+20395GAGT[7]MANE SELECT
• NM_001406836.1:c.1418+20395GAGT[7]
• NM_001406837.1:c.1244+20395GAGT[7]
• NM_001406838.1:c.974+20395GAGT[7]
• NM_181798.2:c.1133+20395GAGT[7]
• LRG_1052t1:n.17492ACTC[7]
• LRG_1052:g.22492ACTC[7]
• LRG_287:g.242486GAGT[7]
• NC_000011.9:g.2703706GAGT[7]
• NR_002728.3:n.17492ACTC[7]
• NR_002728.4:n.17488_17491ACTC[7]

This HGVS expression did not pass validation

Molecular consequence:

• NM_000218.3:c.1514+20395GAGT[7] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406836.1:c.1418+20395GAGT[7] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406837.1:c.1244+20395GAGT[7] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406838.1:c.974+20395GAGT[7] - intron variant - [Sequence Ontology: SO:0001627]
• NM_181798.2:c.1133+20395GAGT[7] - intron variant - [Sequence Ontology: SO:0001627]

Observations:

11