nsv1398490
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:33,820
- Description:
See descriptions for individual calls in download files - Publication(s):Kremer et al. 2016, Lalani et al. 2016, Lalani et al. 2018, Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021
- ClinVar: RCV000210032.2
- ClinVar: RCV000210339.6
- ClinVar: VCV000224770.4
- GeneReviews: NBK476443
- HP: 0001249
- HP: 0001250
- HP: 0003752
- HP: 0008942
- HP: 0011675
- MONDO: 0001071
- MONDO: 0018820
- MeSH: D008607
- MedGen: C0003811
- MedGen: C0036572
- MedGen: C3714756
- MedGen: C3807306
- MedGen: C4025572
- MedGen: C5567524
- OMIM: 616830.0001
- OMIM: 616830.0002
- OMIM: 616830.0003
- OMIM: 616830.0004
- OMIM: 616830.0005
- OMIM: 616830.0006
- OMIM: 616830.0007
- OMIM: 616830.0008
- OMIM: 616830.0009
- OMIM: 616830.0010
- OMIM: 616878
- PubMed: 21956720
- PubMed: 25157020
- PubMed: 26805781
- PubMed: 26805782
- PubMed: 29369572
- PubMed: 34131312
- PubMed: 34211152
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 457 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 70 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv1398490 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 20,041,612 | 20,075,431 |
| nsv1398490 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 20,029,135 | 20,062,954 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15161831 | deletion | Multiple | Multiple | METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION; MECRCN; Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; See individual phenotypes in OMIM allelic variants; TANGO2-Related Metabolic Encephalopathy and Arrhythmias | Pathogenic | ClinVar | RCV000210339.6, VCV000224770.4 |
| nssv8639845 | deletion | Multiple | Multiple | Acute rhabdomyolysis; Acute rhabdomyolysis; Arrhythmia; Cardiac arrhythmia; Episodic flaccid weakness; Episodic flaccid weakness; Intellectual Disability; Intellectual disability; Intellectual disability; Seizure; Seizures | Pathogenic | ClinVar | RCV000210032.2, VCV000224770.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15161831 | Submitted genomic | NC_000022.11:g.200 41612_20075431del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 20,041,612 | 20,075,431 |
| nssv8639845 | Submitted genomic | NC_000022.11:g.200 41612_20075431del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 20,041,612 | 20,075,431 |
| nssv15161831 | Submitted genomic | NC_000022.10:g.200 29135_20062954del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 20,029,135 | 20,062,954 |
| nssv8639845 | Submitted genomic | NC_000022.10:g.200 29135_20062954del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 20,029,135 | 20,062,954 |