nsv4769344
- 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:7,781
- Description:NM_020366.4(RPGRIP1):c.3339+2477_3533-151del AND Leber congenital amaurosis 6
- Publication(s):Kumaran et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 86 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4769344 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 21,337,182 | 21,344,962 |
| nsv4769344 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 21,805,341 | 21,813,121 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16297139 | deletion | Multiple | Multiple | LEBER CONGENITAL AMAUROSIS 6; LCA6; Leber congenital amaurosis; Leber congenital amaurosis 6 | Pathogenic | ClinVar | RCV001261173.1, VCV000981633.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16297139 | Submitted genomic | NC_000014.9:g.2133 7182_21344962del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 21,337,182 | 21,344,962 |
| nssv16297139 | Submitted genomic | NC_000014.8:g.2180 5341_21813121del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,805,341 | 21,813,121 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16297139 | GRCh37: NC_000014.8:g.21805341_21813121del, GRCh38: NC_000014.9:g.21337182_21344962del | deletion | inherited | LEBER CONGENITAL AMAUROSIS 6; LCA6; Leber congenital amaurosis; Leber congenital amaurosis 6 | Pathogenic | ClinVar | RCV001261173.1, VCV000981633.1 |