ClinVar

NM_000218.3(KCNQ1):c.1032+165C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2583710 (on Assembly GRCh38)
• Chr11: 2604940 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1032+165C>T

HGVS:

• NC_000011.10:g.2583710C>T
• NG_008935.1:g.143720C>T
• NM_000218.3:c.1032+165C>TMANE SELECT
• NM_001406836.1:c.1032+165C>T
• NM_001406837.1:c.762+165C>T
• NM_001406838.1:c.588+165C>T
• NM_181798.2:c.651+165C>T
• LRG_287:g.143720C>T
• NC_000011.9:g.2604940C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143907769

NCBI 1000 Genomes Browser:

rs143907769

Molecular consequence:

• NM_000218.3:c.1032+165C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406836.1:c.1032+165C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406837.1:c.762+165C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406838.1:c.588+165C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_181798.2:c.651+165C>T - intron variant - [Sequence Ontology: SO:0001627]