ClinVar

NM_000218.3(KCNQ1):c.1393+30231C>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: 2619085 (on Assembly GRCh38)
• Chr11: 2640315 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1393+30231C>T

HGVS:

• NC_000011.10:g.2619085C>T
• NG_008935.1:g.179095C>T
• NG_016178.2:g.85914G>A
• NM_000218.3:c.1393+30231C>TMANE SELECT
• NM_001406836.1:c.1297+30231C>T
• NM_001406837.1:c.1123+30231C>T
• NM_001406838.1:c.853+30231C>T
• NM_181798.2:c.1012+30231C>T
• LRG_1052t1:n.80914G>A
• LRG_1052:g.85914G>A
• LRG_287:g.179095C>T
• NC_000011.9:g.2640315C>T
• NR_002728.3:n.80914G>A
• NR_002728.4:n.80910G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000218.3:c.1393+30231C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406836.1:c.1297+30231C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406837.1:c.1123+30231C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406838.1:c.853+30231C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_181798.2:c.1012+30231C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

5