ClinVar

NM_000218.3(KCNQ1):c.*975C>T

Genes:

KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 2848978 (on Assembly GRCh38)
• Chr11: 2870208 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.*975C>T

HGVS:

• NC_000011.10:g.2848978C>T
• NG_008935.1:g.408988C>T
• NM_000218.3:c.*975C>TMANE SELECT
• NM_001406836.1:c.*975C>T
• NM_001406837.1:c.*975C>T
• NM_001406838.1:c.*975C>T
• NM_001406839.1:c.*975C>T
• NM_181798.2:c.*975C>T
• LRG_287t1:c.*975C>T
• LRG_287t2:c.*975C>T
• LRG_287:g.408988C>T
• NC_000011.9:g.2870208C>T
• NM_000218.2:c.*975C>T
• NM_181798.1:c.*975C>T
• NR_040711.2:n.2899C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs74048340

NCBI 1000 Genomes Browser:

rs74048340

Molecular consequence:

• NM_000218.3:c.*975C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]