nsv7093107
- 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:2
- Description:NM_001453.3(FOXC1):c.793_1196dup (p.Ala399_Met400insAlaAlaCysProAlaGlyAlaAlaProArgAlaAlaCysArgArgArgGlyArgSerAlaTrpThrValArgIleProArgArgArgArgProArgProProProArgArgArgThrIleAlaArgAlaSerAlaTrpThrThrSerTer) AND Axenfeld-Rieger syndrome type 3
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 113 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 113 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 |
|---|---|---|---|---|---|---|---|
| nsv7093107 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 1,611,234 | 1,611,235 |
| nsv7093107 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 1,611,469 | 1,611,470 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786034 | duplication | Multiple | Multiple | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3 | Pathogenic | ClinVar | RCV002867568.1, VCV002034016.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786034 | Submitted genomic | NC_000006.12:g.161 1234_1611235dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 1,611,234 | 1,611,235 |
| nssv18786034 | Submitted genomic | NC_000006.11:g.161 1469_1611470dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 1,611,469 | 1,611,470 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786034 | GRCh37: NC_000006.11:g.1611469_1611470dup, GRCh38: NC_000006.12:g.1611234_1611235dup | duplication | germline | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3 | Pathogenic | ClinVar | RCV002867568.1, VCV002034016.1 |