nsv4769306
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,732
- Description:NM_000891.3(KCNJ2):c.-217+1029_422del AND multiple conditions
- Publication(s):Ackerman et al. 2011, Alders et al. 2003, Burgunder et al. 2010, Veerapandiyan et al. 2004
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 88 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4769306 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 70,170,730 | 70,175,461 |
| nsv4769306 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 68,166,871 | 68,171,602 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16297123 | deletion | Multiple | Multiple | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Tawil syndrome; Andersen-Tawil Syndrome; Andersen-Tawil syndrome; Familial short QT syndrome; SHORT QT SYNDROME 3; SQT3; Short QT syndrome 3 | Pathogenic | ClinVar | RCV001217669.1, VCV000946743.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16297123 | Submitted genomic | NC_000017.11:g.701 70730_70175461del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 70,170,730 | 70,175,461 |
| nssv16297123 | Submitted genomic | NC_000017.10:g.681 66871_68171602del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 68,166,871 | 68,171,602 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16297123 | GRCh37: NC_000017.10:g.68166871_68171602del, GRCh38: NC_000017.11:g.70170730_70175461del | deletion | germline | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen Tawil syndrome; Andersen-Tawil Syndrome; Andersen-Tawil syndrome; Familial short QT syndrome; SHORT QT SYNDROME 3; SQT3; Short QT syndrome 3 | Pathogenic | ClinVar | RCV001217669.1, VCV000946743.2 |