nsv5673926
- 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:53
- Description:NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs) AND Long QT syndrome
- Publication(s):Alders et al. 2003, Miller et al. 2022, Priori et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 160 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5673926 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 150,952,510 | 150,952,562 |
| nsv5673926 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 150,649,598 | 150,649,650 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172491 | deletion | Multiple | Multiple | Long QT Syndrome; Long QT Syndrome; Long QT syndrome; Long QT syndrome; Prolonged QT interval | Pathogenic | ClinVar | RCV001381096.4, VCV001069284.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17172491 | Submitted genomic | NC_000007.14:g.150 952510_150952562de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 150,952,510 | 150,952,562 |
| nssv17172491 | Submitted genomic | NC_000007.13:g.150 649598_150649650de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 150,649,598 | 150,649,650 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172491 | GRCh37: NC_000007.13:g.150649598_150649650del, GRCh38: NC_000007.14:g.150952510_150952562del | deletion | germline | Long QT Syndrome; Long QT Syndrome; Long QT syndrome; Long QT syndrome; Prolonged QT interval | Pathogenic | ClinVar | RCV001381096.4, VCV001069284.4 |