nsv3882358
- 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:3,452
- Description:NM_001453.3(FOXC1):c.1_*1790del (p.Met1fs) 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: 125 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3882358 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 1,610,446 | 1,613,897 |
| nsv3882358 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 1,610,681 | 1,614,132 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15143743 | deletion | Multiple | Multiple | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3 | Pathogenic | ClinVar | RCV000688364.1, VCV000568112.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15143743 | Submitted genomic | NC_000006.12:g.161 0446_1613897del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 1,610,446 | 1,613,897 |
| nssv15143743 | Submitted genomic | NC_000006.11:g.161 0681_1614132del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 1,610,681 | 1,614,132 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15143743 | GRCh37: NC_000006.11:g.1610681_1614132del, GRCh38: NC_000006.12:g.1610446_1613897del | deletion | germline | AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3 | Pathogenic | ClinVar | RCV000688364.1, VCV000568112.2 |