ClinVar

NM_000218.3(KCNQ1):c.1394-27C>T

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: 2661934 (on Assembly GRCh38)
• Chr11: 2683164 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1394-27C>T

HGVS:

• NC_000011.10:g.2661934C>T
• NG_008935.1:g.221944C>T
• NG_016178.2:g.43065G>A
• NM_000218.2:c.1394-27C>T
• NM_000218.3:c.1394-27C>TMANE SELECT
• NM_001406836.1:c.1298-27C>T
• NM_001406837.1:c.1124-27C>T
• NM_001406838.1:c.854-27C>T
• NM_181798.2:c.1013-27C>T
• LRG_1052t1:n.38065G>A
• LRG_287t1:c.1394-27C>T
• LRG_1052:g.43065G>A
• LRG_287:g.221944C>T
• NC_000011.9:g.2683164C>T
• NR_002728.3:n.38065G>A
• NR_002728.4:n.38061G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs28730757

NCBI 1000 Genomes Browser:

rs28730757

Molecular consequence:

• NM_000218.3:c.1394-27C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406836.1:c.1298-27C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406837.1:c.1124-27C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406838.1:c.854-27C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_181798.2:c.1013-27C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1