Variant Details for KCNQ1
Basic Information Top
| Gene Symbol: | KCNQ1 ( ATFB1,ATFB3,FLJ26167,JLNS1,KCNA8,KCNA9,KVLQT1,Kv1.9,Kv7.1,LQT,LQT1,RWS,SQT2,WRS ) |
|---|---|
| Gene Full Name: | potassium voltage-gated channel, KQT-like subfamily, member 1 |
| Band: | 11p15.5-p15.4 |
| Quick Links | Entrez ID:3784; OMIM: 607542; Uniprot ID:KCNQ1_HUMAN; ENSEMBL ID: ENSG00000053918; HGNC ID: 6294 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 1 | 2 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|