ClinVar

NM_000218.3(KCNQ1):c.1393+34458G>A

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: 2623312 (on Assembly GRCh38)
• Chr11: 2644542 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1393+34458G>A

HGVS:

• NC_000011.10:g.2623312G>A
• NG_008935.1:g.183322G>A
• NG_016178.2:g.81687C>T
• NM_000218.3:c.1393+34458G>AMANE SELECT
• NM_001406836.1:c.1297+34458G>A
• NM_001406837.1:c.1123+34458G>A
• NM_001406838.1:c.853+34458G>A
• NM_181798.2:c.1012+34458G>A
• LRG_1052t1:n.76687C>T
• LRG_1052:g.81687C>T
• LRG_287:g.183322G>A
• NC_000011.9:g.2644542G>A
• NR_002728.3:n.76687C>T
• NR_002728.4:n.76683C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000218.3:c.1393+34458G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406836.1:c.1297+34458G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406837.1:c.1123+34458G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406838.1:c.853+34458G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_181798.2:c.1012+34458G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_002728.4:n.76683C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1